NM_001366385.1(CARD14):c.2777C>G (p.Ser926Cys) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 17, 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:: RCV003801671.2

Allele description [Variation Report for NM_001366385.1(CARD14):c.2777C>G (p.Ser926Cys)]

NM_001366385.1(CARD14):c.2777C>G (p.Ser926Cys)

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.2777C>G (p.Ser926Cys)

HGVS:

NC_000017.11:g.80207055C>G
NG_008229.2:g.18278G>C
NG_032778.1:g.42064C>G
NM_001366385.1:c.2777C>GMANE SELECT
NM_024110.4:c.2777C>G
NP_001353314.1:p.Ser926Cys
NP_077015.2:p.Ser926Cys
LRG_1330t1:c.2777C>G
LRG_1330:g.42064C>G
LRG_1330p1:p.Ser926Cys
NC_000017.10:g.78180854C>G
NR_047566.2:n.2914C>G

Protein change:

S926C

Molecular consequence:

NM_001366385.1:c.2777C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024110.4:c.2777C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_047566.2:n.2914C>G - 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

Recent activity

Clear Turn Off Turn On

Salmonella enterica subsp. enterica serovar 4,[5],12:i:- strain SALI-436-3 NODE_...
Salmonella enterica subsp. enterica serovar 4,[5],12:i:- strain SALI-436-3 NODE_47, whole genome shotgun sequence
gi|810377147|ref|NZ_LAPQ01000033.1| WGS:NZ_LAPQ01|NODE_47

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004596384	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 17, 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

SCV004596384

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 17, 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, SCV004596384.1

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

Description

This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 926 of the CARD14 protein (p.Ser926Cys). This variant is not present in population databases (gnomAD no frequency). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.

#	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

ClinVar

Relating variation to medicine