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NM_032485.6(MCM8):c.1604A>G (p.Glu535Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 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:
RCV004419273.1

Allele description [Variation Report for NM_032485.6(MCM8):c.1604A>G (p.Glu535Gly)]

NM_032485.6(MCM8):c.1604A>G (p.Glu535Gly)

Gene:
MCM8:minichromosome maintenance 8 homologous recombination repair factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p12.3
Genomic location:
Preferred name:
NM_032485.6(MCM8):c.1604A>G (p.Glu535Gly)
HGVS:
  • NC_000020.11:g.5983036A>G
  • NG_042869.1:g.37385A>G
  • NG_042869.2:g.37386A>G
  • NM_001281520.2:c.1604A>G
  • NM_001281521.2:c.1724A>G
  • NM_001281522.2:c.1463A>G
  • NM_032485.6:c.1604A>GMANE SELECT
  • NM_182802.3:c.1556A>G
  • NP_001268449.1:p.Glu535Gly
  • NP_001268450.1:p.Glu575Gly
  • NP_001268451.1:p.Glu488Gly
  • NP_115874.3:p.Glu535Gly
  • NP_877954.1:p.Glu519Gly
  • NC_000020.10:g.5963682A>G
  • NM_032485.4:c.1604A>G
Protein change:
E488G
Molecular consequence:
  • NM_001281520.2:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281521.2:c.1724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281522.2:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032485.6:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182802.3:c.1556A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004903017Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 1, 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, SCV004903017.1

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

Description

The c.1604A>G (p.E535G) alteration is located in exon 14 (coding exon 13) of the MCM8 gene. This alteration results from a A to G substitution at nucleotide position 1604, causing the glutamic acid (E) at amino acid position 535 to be replaced by a glycine (G). 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: May 7, 2024