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NM_018518.5(MCM10):c.286A>G (p.Thr96Ala) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 16, 2024
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:
RCV004419168.1

Allele description [Variation Report for NM_018518.5(MCM10):c.286A>G (p.Thr96Ala)]

NM_018518.5(MCM10):c.286A>G (p.Thr96Ala)

Gene:
MCM10:minichromosome maintenance 10 replication initiation factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_018518.5(MCM10):c.286A>G (p.Thr96Ala)
HGVS:
  • NC_000010.11:g.13171200A>G
  • NM_018518.5:c.286A>GMANE SELECT
  • NM_182751.3:c.286A>G
  • NP_060988.3:p.Thr96Ala
  • NP_877428.1:p.Thr96Ala
  • NC_000010.10:g.13213200A>G
  • NM_182751.2:c.286A>G
Protein change:
T96A
Molecular consequence:
  • NM_018518.5:c.286A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182751.3:c.286A>G - 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
SCV004905072Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 16, 2024) 		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, SCV004905072.1

#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