U.S. flag

An official website of the United States government

NM_000043.6(FAS):c.361C>T (p.Arg121Trp) AND Autoimmune lymphoproliferative syndrome, type 1a

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 1997
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:
RCV000017966.29

Allele description [Variation Report for NM_000043.6(FAS):c.361C>T (p.Arg121Trp)]

NM_000043.6(FAS):c.361C>T (p.Arg121Trp)

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.361C>T (p.Arg121Trp)
Other names:
R105W
HGVS:
  • NC_000010.11:g.89008915C>T
  • NG_009089.2:g.23385C>T
  • NM_000043.6:c.361C>TMANE SELECT
  • NM_001320619.2:c.361C>T
  • NM_152871.4:c.361C>T
  • NM_152872.4:c.361C>T
  • NP_000034.1:p.Arg121Trp
  • NP_001307548.1:p.Arg121Trp
  • NP_690610.1:p.Arg121Trp
  • NP_690611.1:p.Arg121Trp
  • LRG_134t1:c.361C>T
  • LRG_134:g.23385C>T
  • LRG_134p1:p.Arg121Trp
  • NC_000010.10:g.90768672C>T
  • NR_135314.2:n.527C>T
  • P25445:p.Arg121Trp
Protein change:
R121W; ARG105TRP
Links:
UniProtKB: P25445#VAR_013419; OMIM: 134637.0006; dbSNP: rs121913078
NCBI 1000 Genomes Browser:
rs121913078
Molecular consequence:
  • NM_000043.6:c.361C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320619.2:c.361C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152871.4:c.361C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152872.4:c.361C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135314.2:n.527C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Autoimmune lymphoproliferative syndrome, type 1a (ALPS1A)
Synonyms:
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE
Identifiers:
MedGen: C1866119

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
SCV000038245OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 1997) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.

Bettinardi A, Brugnoni D, Quiròs-Roldan E, Malagoli A, La Grutta S, Correra A, Notarangelo LD.

Blood. 1997 Feb 1;89(3):902-9.

PubMed [citation]
PMID:
9028321

Details of each submission

From OMIM, SCV000038245.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Bettinardi et al. (1997) described a family in which 3 sibs affected with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859) were compound heterozygous for 2 mutations in the FAS gene: a 555C-T transition, resulting in an arg105-to-trp (R105W) substitution, was inherited from the mother, and an 889A-G transition, resulting in a tyr216-to-cys (Y216C; 134637.0007) substitution, was inherited from the father. The children shared common features, including splenomegaly and lymphadenopathy, but only 1 developed severe autoimmune hemolytic anemia and thrombocytopenia. Another child developed hypergammaglobulinemia, with increased IgG and IgA serum levels. No clinical or immunologic defect and no evidence of defective FAS function was identified in the heterozygous parents.

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

Last Updated: Apr 23, 2022