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NM_015516.4(TSKU):c.671C>T (p.Ala224Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 4, 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:
RCV004476565.1

Allele description [Variation Report for NM_015516.4(TSKU):c.671C>T (p.Ala224Val)]

NM_015516.4(TSKU):c.671C>T (p.Ala224Val)

Gene:
TSKU:tsukushi, small leucine rich proteoglycan [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_015516.4(TSKU):c.671C>T (p.Ala224Val)
HGVS:
  • NC_000011.10:g.76796287C>T
  • NG_123627.1:g.1097C>T
  • NM_001258210.2:c.671C>T
  • NM_001318477.2:c.713C>T
  • NM_001318478.2:c.671C>T
  • NM_001318479.2:c.671C>T
  • NM_015516.4:c.671C>TMANE SELECT
  • NP_001245139.1:p.Ala224Val
  • NP_001305406.1:p.Ala238Val
  • NP_001305407.1:p.Ala224Val
  • NP_001305408.1:p.Ala224Val
  • NP_056331.2:p.Ala224Val
  • NC_000011.9:g.76507331C>T
  • NM_015516.3:c.671C>T
Protein change:
A224V
Molecular consequence:
  • NM_001258210.2:c.671C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318477.2:c.713C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318478.2:c.671C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318479.2:c.671C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015516.4:c.671C>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
SCV004972539Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 4, 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, SCV004972539.1

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

Description

The c.671C>T (p.A224V) alteration is located in exon 2 (coding exon 1) of the TSKU gene. This alteration results from a C to T substitution at nucleotide position 671, causing the alanine (A) at amino acid position 224 to be replaced by a valine (V). 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: May 7, 2024