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NM_152598.4(MARCHF10):c.1979G>A (p.Arg660His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 30, 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:
RCV004408785.1

Allele description [Variation Report for NM_152598.4(MARCHF10):c.1979G>A (p.Arg660His)]

NM_152598.4(MARCHF10):c.1979G>A (p.Arg660His)

Genes:
MARCHF10:membrane associated ring-CH-type finger 10 [Gene - OMIM - HGNC]
LOC105371855:uncharacterized LOC105371855 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_152598.4(MARCHF10):c.1979G>A (p.Arg660His)
HGVS:
  • NC_000017.11:g.62725063C>T
  • NG_196555.1:g.235C>T
  • NM_001100875.3:c.1979G>A
  • NM_001288779.2:c.2093G>A
  • NM_001288780.2:c.1976G>A
  • NM_152598.4:c.1979G>AMANE SELECT
  • NP_001094345.1:p.Arg660His
  • NP_001275708.1:p.Arg698His
  • NP_001275709.1:p.Arg659His
  • NP_689811.2:p.Arg660His
  • NC_000017.10:g.60802424C>T
  • NM_152598.2:c.1979G>A
Protein change:
R659H
Molecular consequence:
  • NM_001100875.3:c.1979G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288779.2:c.2093G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288780.2:c.1976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152598.4:c.1979G>A - 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
SCV004904234Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 30, 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, SCV004904234.1

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

Description

The c.1979G>A (p.R660H) alteration is located in exon 7 (coding exon 6) of the MARCH10 gene. This alteration results from a G to A substitution at nucleotide position 1979, causing the arginine (R) at amino acid position 660 to be replaced by a histidine (H). 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