NM_001366385.1(CARD14):c.2197G>A (p.Gly733Ser) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 11, 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:: RCV003789729.2

Allele description [Variation Report for NM_001366385.1(CARD14):c.2197G>A (p.Gly733Ser)]

NM_001366385.1(CARD14):c.2197G>A (p.Gly733Ser)

Genes:

SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_001366385.1(CARD14):c.2197G>A (p.Gly733Ser)

HGVS:

NC_000017.11:g.80202398G>A
NG_008229.2:g.22935C>T
NG_032778.1:g.37407G>A
NM_001257970.1:c.2197G>A
NM_001366385.1:c.2197G>AMANE SELECT
NM_024110.4:c.2197G>A
NP_001244899.1:p.Gly733Ser
NP_001353314.1:p.Gly733Ser
NP_077015.2:p.Gly733Ser
LRG_1330t1:c.2197G>A
LRG_1330:g.37407G>A
LRG_1330p1:p.Gly733Ser
NC_000017.10:g.78176197G>A
NR_047566.2:n.2324G>A

Protein change:

G733S

Molecular consequence:

NM_001257970.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001366385.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024110.4:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_047566.2:n.2324G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Pityriasis rubra pilaris (PRP)
Synonyms:: Pityriasis rubra pilaris--familial type
Identifiers:: MONDO: MONDO:0100017; MedGen: C0032027; Orphanet: 2897; OMIM: 173200

Name:: Psoriasis 2
Identifiers:: MONDO: MONDO:0011269; MedGen: C1864497; OMIM: 602723

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004575890	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 11, 2023)	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

SCV004575890

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 11, 2023)

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, SCV004575890.1

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

Description

This variant is present in population databases (rs747272365, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CARD14 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 733 of the CARD14 protein (p.Gly733Ser).

#	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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