U.S. flag

An official website of the United States government

NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) AND 3-Methylglutaconic aciduria type 2

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Jan 11, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001078968.11

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)]

NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)

Gene:
TAFAZZIN:tafazzin, phospholipid-lysophospholipid transacylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
HGVS:
  • NC_000023.11:g.154420719C>T
  • NG_009634.2:g.14185C>T
  • NM_000116.5:c.761C>TMANE SELECT
  • NM_001303465.2:c.773C>T
  • NM_181311.4:c.671C>T
  • NM_181312.4:c.719C>T
  • NM_181313.4:c.629C>T
  • NP_000107.1:p.Ala254Val
  • NP_001290394.1:p.Ala258Val
  • NP_851828.1:p.Ala224Val
  • NP_851829.1:p.Ala240Val
  • NP_851830.1:p.Ala210Val
  • LRG_131t1:c.761C>T
  • LRG_131:g.14185C>T
  • LRG_131p1:p.Ala254Val
  • NC_000023.10:g.153649058C>T
  • NG_009634.1:g.14182C>T
  • NM_000116.3:c.761C>T
  • NM_000116.4:c.761C>T
  • NR_024048.3:n.1082C>T
Protein change:
A210V
Links:
dbSNP: rs200909606
NCBI 1000 Genomes Browser:
rs200909606
Molecular consequence:
  • NM_000116.5:c.761C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303465.2:c.773C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181311.4:c.671C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181312.4:c.719C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181313.4:c.629C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024048.3:n.1082C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
3-Methylglutaconic aciduria type 2 (BTHS)
Synonyms:
Barth syndrome; 3-methylglutaconicaciduria type II; MGA type II; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010543; MedGen: C0574083; Orphanet: 111; OMIM: 302060

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
SCV001129782Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 11, 2024) 		germlineclinical testing

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

SCV001330136Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Jan 12, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001129782.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV001330136.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024