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NM_001040455.2(SIDT2):c.233C>T (p.Ala78Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 9, 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:
RCV004144870.1

Allele description [Variation Report for NM_001040455.2(SIDT2):c.233C>T (p.Ala78Val)]

NM_001040455.2(SIDT2):c.233C>T (p.Ala78Val)

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.233C>T (p.Ala78Val)
HGVS:
  • NC_000011.10:g.117181465C>T
  • NG_124056.1:g.141C>T
  • NM_001040455.2:c.233C>TMANE SELECT
  • NP_001035545.1:p.Ala78Val
  • NC_000011.9:g.117052181C>T
  • NM_001040455.1:c.233C>T
Protein change:
A78V
Molecular consequence:
  • NM_001040455.2:c.233C>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
SCV003627387Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 9, 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, SCV003627387.2

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

Description

The c.233C>T (p.A78V) alteration is located in exon 2 (coding exon 2) of the SIDT2 gene. This alteration results from a C to T substitution at nucleotide position 233, causing the alanine (A) at amino acid position 78 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 3, 2024