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NM_000492.4(CFTR):c.377G>C (p.Gly126Ala) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 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:
RCV004526166.1

Allele description [Variation Report for NM_000492.4(CFTR):c.377G>C (p.Gly126Ala)]

NM_000492.4(CFTR):c.377G>C (p.Gly126Ala)

Gene:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.377G>C (p.Gly126Ala)
HGVS:
  • NC_000007.14:g.117531002G>C
  • NG_016465.4:g.70219G>C
  • NM_000492.4:c.377G>CMANE SELECT
  • NP_000483.3:p.Gly126Ala
  • LRG_663t1:c.377G>C
  • LRG_663:g.70219G>C
  • NC_000007.13:g.117171056G>C
  • NM_000492.3:c.377G>C
Protein change:
G126A
Links:
dbSNP: rs397508609
NCBI 1000 Genomes Browser:
rs397508609
Molecular consequence:
  • NM_000492.4:c.377G>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
SCV005039934Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 9, 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005039934.1

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

Description

Variant summary: ACAT1 c.377G>C (p.Cys126Ser) results in a non-conservative amino acid change located in the Thiolase, N-terminal (IPR020616) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251396 control chromosomes. c.377G>C has been reported in the literature in individuals affected with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency. These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: May 7, 2024