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NM_001409.4(MEGF6):c.3443G>T (p.Arg1148Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 9, 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:
RCV004071195.1

Allele description [Variation Report for NM_001409.4(MEGF6):c.3443G>T (p.Arg1148Leu)]

NM_001409.4(MEGF6):c.3443G>T (p.Arg1148Leu)

Gene:
MEGF6:multiple EGF like domains 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.32
Genomic location:
Preferred name:
NM_001409.4(MEGF6):c.3443G>T (p.Arg1148Leu)
HGVS:
  • NC_000001.11:g.3497271C>A
  • NM_001409.4:c.3443G>TMANE SELECT
  • NM_001410718.1:c.3128G>T
  • NP_001397647.1:p.Arg1043Leu
  • NP_001400.3:p.Arg1148Leu
  • NC_000001.10:g.3413835C>A
  • NM_001409.3:c.3443G>T
Protein change:
R1043L
Molecular consequence:
  • NM_001409.4:c.3443G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410718.1:c.3128G>T - 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
SCV003526573Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 9, 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, SCV003526573.2

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

Description

The c.3443G>T (p.R1148L) alteration is located in exon 27 (coding exon 27) of the MEGF6 gene. This alteration results from a G to T substitution at nucleotide position 3443, causing the arginine (R) at amino acid position 1148 to be replaced by a leucine (L). 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 10, 2024