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NM_001321527.2(GPAT2):c.481G>C (p.Val161Leu) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 7, 2024
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:
RCV004387982.1

Allele description [Variation Report for NM_001321527.2(GPAT2):c.481G>C (p.Val161Leu)]

NM_001321527.2(GPAT2):c.481G>C (p.Val161Leu)

Gene:
GPAT2:glycerol-3-phosphate acyltransferase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q11.2
Genomic location:
Preferred name:
NM_001321527.2(GPAT2):c.481G>C (p.Val161Leu)
HGVS:
  • NC_000002.12:g.96030410C>G
  • NM_001321525.2:c.481G>C
  • NM_001321526.2:c.481G>C
  • NM_001321527.2:c.481G>CMANE SELECT
  • NM_001321528.2:c.481G>C
  • NM_001321529.2:c.481G>C
  • NM_001321530.2:c.481G>C
  • NM_001321531.2:c.481G>C
  • NM_001389639.1:c.481G>C
  • NM_207328.4:c.481G>C
  • NP_001308454.1:p.Val161Leu
  • NP_001308455.1:p.Val161Leu
  • NP_001308456.1:p.Val161Leu
  • NP_001308457.1:p.Val161Leu
  • NP_001308458.1:p.Val161Leu
  • NP_001308459.1:p.Val161Leu
  • NP_001308460.1:p.Val161Leu
  • NP_001376568.1:p.Val161Leu
  • NP_997211.2:p.Val161Leu
  • NC_000002.11:g.96696158C>G
  • NM_207328.2:c.481G>C
Protein change:
V161L
Molecular consequence:
  • NM_001321525.2:c.481G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321526.2:c.481G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321527.2:c.481G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321528.2:c.481G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321529.2:c.481G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321530.2:c.481G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321531.2:c.481G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001389639.1:c.481G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_207328.4:c.481G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004877446Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 7, 2024) 		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, SCV004877446.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024