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NM_001303457.2(TTI1):c.2104A>G (p.Ile702Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 23, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002813820.2

Allele description [Variation Report for NM_001303457.2(TTI1):c.2104A>G (p.Ile702Val)]

NM_001303457.2(TTI1):c.2104A>G (p.Ile702Val)

Gene:
TTI1:TELO2 interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.23
Genomic location:
Preferred name:
NM_001303457.2(TTI1):c.2104A>G (p.Ile702Val)
HGVS:
  • NC_000020.11:g.38011713T>C
  • NM_001303457.2:c.2104A>GMANE SELECT
  • NM_014657.3:c.2104A>G
  • NP_001290386.1:p.Ile702Val
  • NP_055472.1:p.Ile702Val
  • NC_000020.10:g.36640115T>C
  • NM_014657.1:c.2104A>G
Protein change:
I702V
Molecular consequence:
  • NM_001303457.2:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014657.3:c.2104A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003613402Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 23, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003613402.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2104A>G (p.I702V) alteration is located in exon 3 (coding exon 1) of the TTI1 gene. This alteration results from a A to G substitution at nucleotide position 2104, causing the isoleucine (I) at amino acid position 702 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024