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NM_001033602.4(MTUS2):c.2932G>C (p.Ala978Pro) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 28, 2021
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:
RCV004515012.1

Allele description [Variation Report for NM_001033602.4(MTUS2):c.2932G>C (p.Ala978Pro)]

NM_001033602.4(MTUS2):c.2932G>C (p.Ala978Pro)

Gene:
MTUS2:microtubule associated scaffold protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.3
Genomic location:
Preferred name:
NM_001033602.4(MTUS2):c.2932G>C (p.Ala978Pro)
HGVS:
  • NC_000013.11:g.29359288G>C
  • NM_001033602.4:c.2932G>CMANE SELECT
  • NM_001366650.1:c.2929G>C
  • NM_001366651.1:c.2734G>C
  • NM_001384605.1:c.2932G>C
  • NM_001384606.1:c.2932G>C
  • NP_001028774.3:p.Ala978Pro
  • NP_001353579.1:p.Ala977Pro
  • NP_001353580.1:p.Ala912Pro
  • NP_001371534.1:p.Ala978Pro
  • NP_001371535.1:p.Ala978Pro
  • NC_000013.10:g.29933425G>C
  • NM_001033602.2:c.2962G>C
Protein change:
A912P
Molecular consequence:
  • NM_001033602.4:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366650.1:c.2929G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366651.1:c.2734G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384605.1:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384606.1:c.2932G>C - 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
SCV005010865Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 28, 2021) 		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, SCV005010865.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024