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NM_033187.2(KRTAP4-3):c.508C>A (p.Arg170Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 19, 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:
RCV004639732.1

Allele description [Variation Report for NM_033187.2(KRTAP4-3):c.508C>A (p.Arg170Ser)]

NM_033187.2(KRTAP4-3):c.508C>A (p.Arg170Ser)

Gene:
KRTAP4-3:keratin associated protein 4-3 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_033187.2(KRTAP4-3):c.508C>A (p.Arg170Ser)
HGVS:
  • NC_000017.11:g.41167665G>T
  • NM_033187.2:c.508C>AMANE SELECT
  • NP_149443.1:p.Arg170Ser
  • NC_000017.10:g.39323917G>T
  • NM_033187.1:c.508C>A
Protein change:
R170S
Molecular consequence:
  • NM_033187.2:c.508C>A - 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
SCV005137088Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 19, 2024) 		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, SCV005137088.1

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

Description

The c.508C>A (p.R170S) alteration is located in exon 1 (coding exon 1) of the KRTAP4-3 gene. This alteration results from a C to A substitution at nucleotide position 508, causing the arginine (R) at amino acid position 170 to be replaced by a serine (S). 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: Aug 11, 2024