NM_000043.6(FAS):c.67G>A (p.Val23Ile) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 27, 2023
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:: RCV004369165.1

Allele description [Variation Report for NM_000043.6(FAS):c.67G>A (p.Val23Ile)]

NM_000043.6(FAS):c.67G>A (p.Val23Ile)

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.67G>A (p.Val23Ile)

HGVS:

NC_000010.11:g.89003065G>A
NG_009089.2:g.17535G>A
NM_000043.6:c.67G>AMANE SELECT
NM_001320619.2:c.67G>A
NM_001410956.1:c.112G>A
NM_152871.4:c.67G>A
NM_152872.4:c.67G>A
NP_000034.1:p.Val23Ile
NP_000034.1:p.Val23Ile
NP_001307548.1:p.Val23Ile
NP_001397885.1:p.Val38Ile
NP_690610.1:p.Val23Ile
NP_690611.1:p.Val23Ile
LRG_134t1:c.67G>A
LRG_134:g.17535G>A
LRG_134p1:p.Val23Ile
NC_000010.10:g.90762822G>A
NM_000043.4:c.67G>A
NR_028033.4:n.146G>A
NR_028034.4:n.146G>A
NR_028035.4:n.146G>A
NR_028036.4:n.146G>A
NR_135313.2:n.146G>A
NR_135314.2:n.233G>A
NR_135315.2:n.233G>A

Protein change:

V23I

Molecular consequence:

NM_000043.6:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320619.2:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001410956.1:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152871.4:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152872.4:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_028033.4:n.146G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028034.4:n.146G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028035.4:n.146G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_028036.4:n.146G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135313.2:n.146G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135314.2:n.233G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135315.2:n.233G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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PREDICTED: Homo sapiens potassium voltage-gated channel modifier subfamily G mem...
PREDICTED: Homo sapiens potassium voltage-gated channel modifier subfamily G member 3 (KCNG3), transcript variant X1, misc_RNA
gi|2217326153|ref|XR_007069666.1|

Nucleotide
484 genome skims from the Norwegian arctic vascular flora
484 genome skims from the Norwegian arctic vascular flora
484 genome skims from the Norwegian arctic vascular flora

BioProject
Cynanchum vincetoxicum (1)
BioProject

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004869666	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004869666

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 27, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV004869666.1

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

Description

The c.67G>A (p.V23I) alteration is located in exon 2 (coding exon 2) of the FAS gene. This alteration results from a G to A substitution at nucleotide position 67, causing the valine (V) at amino acid position 23 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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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