U.S. flag

An official website of the United States government

NM_198219.3(ING1):c.575C>A (p.Ala192Asp) AND Squamous cell carcinoma of the head and neck

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 15, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000008535.4

Allele description [Variation Report for NM_198219.3(ING1):c.575C>A (p.Ala192Asp)]

NM_198219.3(ING1):c.575C>A (p.Ala192Asp)

Gene:
ING1:inhibitor of growth family member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_198219.3(ING1):c.575C>A (p.Ala192Asp)
HGVS:
  • NC_000013.11:g.110719667C>A
  • NG_012197.1:g.11932C>A
  • NM_001267728.1:c.524C>A
  • NM_005537.5:c.1004C>A
  • NM_198217.3:c.443C>A
  • NM_198218.3:c.368C>A
  • NM_198219.3:c.575C>AMANE SELECT
  • NP_001254657.1:p.Ala175Asp
  • NP_005528.4:p.Ala335Asp
  • NP_937860.1:p.Ala148Asp
  • NP_937861.1:p.Ala123Asp
  • NP_937862.1:p.Ala192Asp
  • NC_000013.10:g.111372014C>A
Protein change:
A123D; ALA192ASP
Links:
OMIM: 601566.0003; dbSNP: rs121909252
NCBI 1000 Genomes Browser:
rs121909252
Molecular consequence:
  • NM_001267728.1:c.524C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005537.5:c.1004C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198217.3:c.443C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198218.3:c.368C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198219.3:c.575C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Squamous cell carcinoma of the head and neck (HNSCC)
Synonyms:
Head and neck squamous cell carcinoma; Carcinoma, squamous cell of head and neck; Squamous cell carcinoma, head and neck, somatic
Identifiers:
MONDO: MONDO:0010150; MeSH: D000077195; MedGen: C1168401; Orphanet: 67037; OMIM: 275355

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028743OMIM
no assertion criteria provided
Pathogenic
(Jun 15, 2000) 		somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Genomic structure of the human ING1 gene and tumor-specific mutations detected in head and neck squamous cell carcinomas.

Gunduz M, Ouchida M, Fukushima K, Hanafusa H, Etani T, Nishioka S, Nishizaki K, Shimizu K.

Cancer Res. 2000 Jun 15;60(12):3143-6.

PubMed [citation]
PMID:
10866301

Details of each submission

From OMIM, SCV000028743.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In tumor tissue from a case of squamous cell carcinoma of the head and neck (275355), Gunduz et al. (2000) found a C-to-A change (GCC-GAC) in exon 2 of the ING1 gene resulting in an ala192-to-asp substitution. This mutation may affect the nuclear localization signal and ultimately interfere in the accumulation of ING1 protein in the nucleus.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022