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NM_001040455.2(SIDT2):c.565G>A (p.Val189Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 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:
RCV004164347.1

Allele description [Variation Report for NM_001040455.2(SIDT2):c.565G>A (p.Val189Met)]

NM_001040455.2(SIDT2):c.565G>A (p.Val189Met)

Gene:
SIDT2:SID1 transmembrane family member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001040455.2(SIDT2):c.565G>A (p.Val189Met)
HGVS:
  • NC_000011.10:g.117182567G>A
  • NM_001040455.2:c.565G>AMANE SELECT
  • NP_001035545.1:p.Val189Met
  • NC_000011.9:g.117053283G>A
  • NM_001040455.1:c.565G>A
Protein change:
V189M
Molecular consequence:
  • NM_001040455.2:c.565G>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
SCV003652480Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 26, 2022) 		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, SCV003652480.2

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

Description

The c.565G>A (p.V189M) alteration is located in exon 5 (coding exon 5) of the SIDT2 gene. This alteration results from a G to A substitution at nucleotide position 565, causing the valine (V) at amino acid position 189 to be replaced by a methionine (M). 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