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NM_145212.4(MRPL30):c.65G>T (p.Gly22Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 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:
RCV004073065.1

Allele description [Variation Report for NM_145212.4(MRPL30):c.65G>T (p.Gly22Val)]

NM_145212.4(MRPL30):c.65G>T (p.Gly22Val)

Gene:
MRPL30:mitochondrial ribosomal protein L30 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q11.2
Genomic location:
Preferred name:
NM_145212.4(MRPL30):c.65G>T (p.Gly22Val)
HGVS:
  • NC_000002.12:g.99188190G>T
  • NM_145212.4:c.65G>TMANE SELECT
  • NP_660213.1:p.Gly22Val
  • NC_000002.11:g.99804653G>T
  • NM_145212.3:c.65G>T
  • NR_028356.2:n.158G>T
Protein change:
G22V
Molecular consequence:
  • NM_145212.4:c.65G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_028356.2:n.158G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003534918Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 6, 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, SCV003534918.2

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

Description

The c.65G>T (p.G22V) alteration is located in exon 3 (coding exon 2) of the MRPL30 gene. This alteration results from a G to T substitution at nucleotide position 65, causing the glycine (G) at amino acid position 22 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 19, 2024