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NM_001365693.1(MGAM):c.750G>C (p.Gln250His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 22, 2023
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:
RCV004281558.1

Allele description [Variation Report for NM_001365693.1(MGAM):c.750G>C (p.Gln250His)]

NM_001365693.1(MGAM):c.750G>C (p.Gln250His)

Gene:
MGAM:maltase-glucoamylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_001365693.1(MGAM):c.750G>C (p.Gln250His)
HGVS:
  • NC_000007.14:g.142022307G>C
  • NG_033954.1:g.31429G>C
  • NG_033954.2:g.40791G>C
  • NM_001365693.1:c.750G>CMANE SELECT
  • NM_004668.3:c.750G>C
  • NP_001352622.1:p.Gln250His
  • NP_004659.2:p.Gln250His
  • NC_000007.13:g.141722107G>C
  • NM_004668.2:c.750G>C
Protein change:
Q250H
Molecular consequence:
  • NM_001365693.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004668.3:c.750G>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
SCV003937424Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 22, 2023) 		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, SCV003937424.2

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

Description

The c.750G>C (p.Q250H) alteration is located in exon 7 (coding exon 6) of the MGAM gene. This alteration results from a G to C substitution at nucleotide position 750, causing the glutamine (Q) at amino acid position 250 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: Nov 3, 2024