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NM_138572.3(TAF8):c.574C>T (p.Arg192Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 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:
RCV004289432.1

Allele description [Variation Report for NM_138572.3(TAF8):c.574C>T (p.Arg192Cys)]

NM_138572.3(TAF8):c.574C>T (p.Arg192Cys)

Gene:
TAF8:TATA-box binding protein associated factor 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_138572.3(TAF8):c.574C>T (p.Arg192Cys)
HGVS:
  • NC_000006.12:g.42066396C>T
  • NM_001410906.1:c.574C>T
  • NM_001410907.1:c.574C>T
  • NM_138572.3:c.574C>TMANE SELECT
  • NP_001397835.1:p.Arg192Cys
  • NP_001397836.1:p.Arg192Cys
  • NP_612639.2:p.Arg192Cys
  • NC_000006.11:g.42034134C>T
  • NM_138572.2:c.574C>T
Protein change:
R192C
Molecular consequence:
  • NM_001410906.1:c.574C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410907.1:c.574C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138572.3:c.574C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003942926Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 8, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003942926.2

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

Description

The c.574C>T (p.R192C) alteration is located in exon 6 (coding exon 6) of the TAF8 gene. This alteration results from a C to T substitution at nucleotide position 574, causing the arginine (R) at amino acid position 192 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024