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NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 27, 2022
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:
RCV002508273.1

Allele description [Variation Report for NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)]

NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)

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.868C>T (p.Arg290Ter)
HGVS:
  • NC_000002.12:g.206770181C>T
  • NG_008984.1:g.9794C>T
  • NM_001136193.2:c.868C>TMANE SELECT
  • NM_001136194.2:c.868C>T
  • NM_014929.4:c.868C>T
  • NP_001129665.1:p.Arg290Ter
  • NP_001129666.1:p.Arg290Ter
  • NP_055744.2:p.Arg290Ter
  • NP_055744.2:p.Arg290Ter
  • NC_000002.11:g.207634905C>T
  • NM_014929.3:c.868C>T
Protein change:
R290*; ARG290TER
Links:
OMIM: 612322.0004; dbSNP: rs778120270
NCBI 1000 Genomes Browser:
rs778120270
Molecular consequence:
  • NM_001136193.2:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001136194.2:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014929.4:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002817924GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Dec 27, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002817924.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies suggest a damaging effect: failure to rescue mitochondrial respiration (Wei et al., 2020); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31944455, 33314036)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024