NM_000043.6(FAS):c.755del (p.Asn252fs) AND Autoimmune lymphoproliferative syndrome type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 30, 2021
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:: RCV000701568.5

Allele description [Variation Report for NM_000043.6(FAS):c.755del (p.Asn252fs)]

NM_000043.6(FAS):c.755del (p.Asn252fs)

Gene:

FAS:Fas cell surface death receptor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q23.31

Genomic location:

Preferred name:

NM_000043.6(FAS):c.755del (p.Asn252fs)

HGVS:

NC_000010.11:g.89014197del
NG_009089.2:g.28667del
NM_000043.6:c.755delMANE SELECT
NM_001320619.2:c.*78del
NM_152871.4:c.692del
NM_152872.4:c.*67del
NP_000034.1:p.Asn252fs
NP_690610.1:p.Asn231fs
LRG_134:g.28667del
NC_000010.10:g.90773953del
NC_000010.10:g.90773954del
NM_000043.5:c.755delA
NR_028033.4:n.662del
NR_028034.4:n.524del
NR_028035.4:n.587del
NR_028036.4:n.725del
NR_135313.2:n.642del
NR_135314.2:n.921del
NR_135315.2:n.674del

Protein change:

N231fs

Links:

dbSNP: rs1564699214

NCBI 1000 Genomes Browser:

rs1564699214

Molecular consequence:

NM_001320619.2:c.*78del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_152872.4:c.*67del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000043.6:c.755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_152871.4:c.692del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_028033.4:n.662del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028034.4:n.524del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028035.4:n.587del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028036.4:n.725del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135313.2:n.642del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135314.2:n.921del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135315.2:n.674del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Autoimmune lymphoproliferative syndrome type 1 (ALPS)
Synonyms:: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
Identifiers:: MONDO: MONDO:0011158; MedGen: C1328840; Orphanet: 3261; OMIM: 601859

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PREDICTED: fibrillin-1 isoform X1 [Nanorana parkeri]
PREDICTED: fibrillin-1 isoform X1 [Nanorana parkeri]
gi|1072265767|ref|XP_018418410.1|

Protein
Carbonic anhydrase 3 [Mus musculus]
Carbonic anhydrase 3 [Mus musculus]
gi|15029812|gb|AAH11129.1|

Protein
LOC121436540 [Microtus oregoni]
LOC121436540 [Microtus oregoni]
Gene ID:121436540

Gene
FBN1 [Nanorana parkeri]
FBN1 [Nanorana parkeri]
Gene ID:108792195

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000830374	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 30, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000830374

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 30, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV000830374.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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