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NM_000043.6(FAS):c.749G>C (p.Arg250Pro) AND not provided

Germline classification:
Pathogenic (2 submissions)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001701481.3

Allele description [Variation Report for NM_000043.6(FAS):c.749G>C (p.Arg250Pro)]

NM_000043.6(FAS):c.749G>C (p.Arg250Pro)

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.749G>C (p.Arg250Pro)
Other names:
R234P
HGVS:
  • NC_000010.11:g.89014191G>C
  • NG_009089.2:g.28661G>C
  • NM_000043.6:c.749G>CMANE SELECT
  • NM_001320619.2:c.*72G>C
  • NM_152871.4:c.686G>C
  • NM_152872.4:c.*61G>C
  • NP_000034.1:p.Arg250Pro
  • NP_690610.1:p.Arg229Pro
  • LRG_134:g.28661G>C
  • NC_000010.10:g.90773948G>C
  • NM_000043.5:c.749G>C
  • NR_028033.4:n.656G>C
  • NR_028034.4:n.518G>C
  • NR_028035.4:n.581G>C
  • NR_028036.4:n.719G>C
  • NR_135313.2:n.636G>C
  • NR_135314.2:n.915G>C
  • NR_135315.2:n.668G>C
  • P25445:p.Arg250Pro
Protein change:
R229P; ARG234PRO
Links:
UniProtKB: P25445#VAR_013426; OMIM: 134637.0009; dbSNP: rs121913080
NCBI 1000 Genomes Browser:
rs121913080
Molecular consequence:
  • NM_001320619.2:c.*72G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152872.4:c.*61G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000043.6:c.749G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152871.4:c.686G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_028033.4:n.656G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028034.4:n.518G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028035.4:n.581G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_028036.4:n.719G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135313.2:n.636G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135314.2:n.915G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135315.2:n.668G>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
SCV001929322Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Pathogenicgermlineclinical testing

SCV001952735Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Pathogenicgermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001929322.1

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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001952735.1

#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: Sep 29, 2024