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NM_152513.4(MEI1):c.787C>G (p.Gln263Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 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:
RCV004307257.1

Allele description [Variation Report for NM_152513.4(MEI1):c.787C>G (p.Gln263Glu)]

NM_152513.4(MEI1):c.787C>G (p.Gln263Glu)

Gene:
MEI1:meiotic double-stranded break formation protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_152513.4(MEI1):c.787C>G (p.Gln263Glu)
HGVS:
  • NC_000022.11:g.41723996C>G
  • NM_152513.4:c.787C>GMANE SELECT
  • NP_689726.3:p.Gln263Glu
  • NC_000022.10:g.42120000C>G
  • NM_152513.3:c.787C>G
Protein change:
Q263E
Molecular consequence:
  • NM_152513.4:c.787C>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
SCV003970546Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 19, 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, SCV003970546.2

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

Description

The c.787C>G (p.Q263E) alteration is located in exon 7 (coding exon 7) of the MEI1 gene. This alteration results from a C to G substitution at nucleotide position 787, causing the glutamine (Q) at amino acid position 263 to be replaced by a glutamic acid (E). 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