NM_001385028.1(MEGF11):c.3334C>T (p.Pro1112Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 6, 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:
RCV004423971.1

Allele description [Variation Report for NM_001385028.1(MEGF11):c.3334C>T (p.Pro1112Ser)]

NM_001385028.1(MEGF11):c.3334C>T (p.Pro1112Ser)

Gene:
MEGF11:multiple EGF like domains 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_001385028.1(MEGF11):c.3334C>T (p.Pro1112Ser)
HGVS:
  • NC_000015.10:g.65898023G>A
  • NM_001385028.1:c.3334C>TMANE SELECT
  • NM_001385030.1:c.2821C>T
  • NM_001385031.1:c.2806C>T
  • NM_001387150.1:c.3046C>T
  • NM_032445.3:c.3046C>T
  • NP_001371957.1:p.Pro1112Ser
  • NP_001371959.1:p.Pro941Ser
  • NP_001371960.1:p.Pro936Ser
  • NP_001374079.1:p.Pro1016Ser
  • NP_115821.2:p.Pro1016Ser
  • NC_000015.9:g.66190361G>A
  • NM_032445.2:c.3046C>T
  • NR_169554.1:n.3368C>T
  • NR_169555.1:n.3213C>T
  • NR_169556.1:n.3345C>T
  • NR_169557.1:n.3607C>T
  • NR_169558.1:n.3144C>T
Protein change:
P1016S
Molecular consequence:
  • NM_001385028.1:c.3334C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385030.1:c.2821C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385031.1:c.2806C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387150.1:c.3046C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032445.3:c.3046C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_169554.1:n.3368C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_169555.1:n.3213C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_169556.1:n.3345C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_169557.1:n.3607C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_169558.1:n.3144C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004903905Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 6, 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, SCV004903905.1

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

Description

The c.3046C>T (p.P1016S) alteration is located in exon 23 (coding exon 22) of the MEGF11 gene. This alteration results from a C to T substitution at nucleotide position 3046, causing the proline (P) at amino acid position 1016 to be replaced by a serine (S). 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