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NM_017857.4(SSH3):c.428A>T (p.Glu143Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 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:
RCV004319462.1

Allele description [Variation Report for NM_017857.4(SSH3):c.428A>T (p.Glu143Val)]

NM_017857.4(SSH3):c.428A>T (p.Glu143Val)

Gene:
SSH3:slingshot protein phosphatase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_017857.4(SSH3):c.428A>T (p.Glu143Val)
HGVS:
  • NC_000011.10:g.67306926A>T
  • NM_017857.4:c.428A>TMANE SELECT
  • NP_060327.3:p.Glu143Val
  • NC_000011.9:g.67074397A>T
  • NM_017857.3:c.428A>T
Protein change:
E143V
Molecular consequence:
  • NM_017857.4:c.428A>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
SCV003981598Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 17, 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, SCV003981598.2

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

Description

The c.428A>T (p.E143V) alteration is located in exon 4 (coding exon 4) of the SSH3 gene. This alteration results from a A to T substitution at nucleotide position 428, causing the glutamic acid (E) at amino acid position 143 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: Nov 10, 2024