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NM_000043.6(FAS):c.815A>C (p.Glu272Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 3, 2018
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:
RCV000788605.2

Allele description [Variation Report for NM_000043.6(FAS):c.815A>C (p.Glu272Ala)]

NM_000043.6(FAS):c.815A>C (p.Glu272Ala)

Gene:
FAS:Fas cell surface death receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000043.6(FAS):c.815A>C (p.Glu272Ala)
HGVS:
  • NC_000010.11:g.89014257A>C
  • NG_009089.2:g.28727A>C
  • NM_000043.6:c.815A>CMANE SELECT
  • NM_001320619.2:c.*138A>C
  • NM_152871.4:c.752A>C
  • NM_152872.4:c.*127A>C
  • NP_000034.1:p.Glu272Ala
  • NP_690610.1:p.Glu251Ala
  • LRG_134t1:c.815A>C
  • LRG_134:g.28727A>C
  • NC_000010.10:g.90774014A>C
  • NM_000043.4:c.815A>C
  • NR_028033.4:n.722A>C
  • NR_028034.4:n.584A>C
  • NR_028035.4:n.647A>C
  • NR_028036.4:n.785A>C
  • NR_135313.2:n.702A>C
  • NR_135314.2:n.981A>C
  • NR_135315.2:n.734A>C
Protein change:
E251A
Links:
dbSNP: rs1589491089
NCBI 1000 Genomes Browser:
rs1589491089
Molecular consequence:
  • NM_001320619.2:c.*138A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152872.4:c.*127A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000043.6:c.815A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152871.4:c.752A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_028033.4:n.722A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028034.4:n.584A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028035.4:n.647A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028036.4:n.785A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135313.2:n.702A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135314.2:n.981A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135315.2:n.734A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000927774Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)
Uncertain significance
(Jul 3, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV000927774.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024