NM_001136193.2(FASTKD2):c.781C>T (p.Arg261Cys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 22, 2024
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:: RCV003092250.3

Allele description [Variation Report for NM_001136193.2(FASTKD2):c.781C>T (p.Arg261Cys)]

NM_001136193.2(FASTKD2):c.781C>T (p.Arg261Cys)

Genes:

LOC126806484:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:207634423-207635622 [Gene]
FASTKD2:FAST kinase domains 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.3

Genomic location:

Preferred name:

NM_001136193.2(FASTKD2):c.781C>T (p.Arg261Cys)

HGVS:

NC_000002.12:g.206770094C>T
NG_008984.1:g.9707C>T
NG_082804.1:g.496C>T
NM_001136193.2:c.781C>TMANE SELECT
NM_001136194.2:c.781C>T
NM_014929.3:c.781C>T
NM_014929.4:c.781C>T
NP_001129665.1:p.Arg261Cys
NP_001129666.1:p.Arg261Cys
NP_055744.2:p.Arg261Cys
NC_000002.11:g.207634818C>T

Protein change:

R261C

Molecular consequence:

NM_001136193.2:c.781C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001136194.2:c.781C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014929.4:c.781C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: Homo sapiens MAGE family member A9B (MAGEA9B), transcript variant X2,...
PREDICTED: Homo sapiens MAGE family member A9B (MAGEA9B), transcript variant X2, mRNA
gi|2462630733|ref|XM_054327681.1|

Nucleotide
Mobilization protein MobC (plasmid) [Actinobacillus pleuropneumoniae serovar 7 s...
Mobilization protein MobC (plasmid) [Actinobacillus pleuropneumoniae serovar 7 str. AP76]
gi|189916541|gnl|tiho|APP7_A1|gb|AC 0.1|

Protein
Glycerate dehydrogenase [Actinobacillus pleuropneumoniae serovar 7 str. AP76]
Glycerate dehydrogenase [Actinobacillus pleuropneumoniae serovar 7 str. AP76]
gi|189916526|gb|ACE62778.1||gnl|tih 7_2126

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003477415	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 22, 2024)	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

SCV003477415

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 22, 2024)

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, SCV003477415.2

#	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 arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 261 of the FASTKD2 protein (p.Arg261Cys). This variant is present in population databases (rs367924143, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with FASTKD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2163300). 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 FASTKD2 protein function with a positive predictive value of 80%. 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

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