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NM_173518.5(MCMDC2):c.1935T>G (p.Asn645Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 13, 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:
RCV004104086.1

Allele description [Variation Report for NM_173518.5(MCMDC2):c.1935T>G (p.Asn645Lys)]

NM_173518.5(MCMDC2):c.1935T>G (p.Asn645Lys)

Gene:
MCMDC2:minichromosome maintenance domain containing 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q13.1
Genomic location:
Preferred name:
NM_173518.5(MCMDC2):c.1935T>G (p.Asn645Lys)
HGVS:
  • NC_000008.11:g.66919058T>G
  • NM_173518.5:c.1935T>GMANE SELECT
  • NP_775789.3:p.Asn645Lys
  • NC_000008.10:g.67831293T>G
  • NM_173518.4:c.1935T>G
Protein change:
N645K
Molecular consequence:
  • NM_173518.5:c.1935T>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
SCV003574774Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 13, 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, SCV003574774.2

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

Description

The c.1935T>G (p.N645K) alteration is located in exon 15 (coding exon 14) of the MCMDC2 gene. This alteration results from a T to G substitution at nucleotide position 1935, causing the asparagine (N) at amino acid position 645 to be replaced by a lysine (K). 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