NM_001385028.1(MEGF11):c.160T>C (p.Cys54Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 22, 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:: RCV004160788.1

Allele description [Variation Report for NM_001385028.1(MEGF11):c.160T>C (p.Cys54Arg)]

NM_001385028.1(MEGF11):c.160T>C (p.Cys54Arg)

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.160T>C (p.Cys54Arg)

HGVS:

NC_000015.10:g.66123939A>G
NM_001385028.1:c.160T>CMANE SELECT
NM_001385029.1:c.160T>C
NM_001385030.1:c.36T>C
NM_001385031.1:c.-81T>C
NM_001385032.1:c.-81T>C
NM_001385033.1:c.160T>C
NM_001387150.1:c.160T>C
NM_001387151.1:c.160T>C
NM_032445.3:c.160T>C
NP_001371957.1:p.Cys54Arg
NP_001371958.1:p.Cys54Arg
NP_001371959.1:p.Asp12=
NP_001371962.1:p.Cys54Arg
NP_001374079.1:p.Cys54Arg
NP_001374080.1:p.Cys54Arg
NP_115821.2:p.Cys54Arg
NC_000015.9:g.66416277A>G
NM_032445.2:c.160T>C
NR_169554.1:n.208T>C
NR_169555.1:n.208T>C
NR_169556.1:n.314T>C
NR_169557.1:n.314T>C
NR_169558.1:n.314T>C

Protein change:

C54R

Molecular consequence:

NM_001385031.1:c.-81T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001385032.1:c.-81T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001385028.1:c.160T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385029.1:c.160T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001385033.1:c.160T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387150.1:c.160T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387151.1:c.160T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_032445.3:c.160T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_169554.1:n.208T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169555.1:n.208T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169556.1:n.314T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169557.1:n.314T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169558.1:n.314T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001385030.1:c.36T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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clathrin coat assembly protein AP180 isoform w [Homo sapiens]
clathrin coat assembly protein AP180 isoform w [Homo sapiens]
gi|1776842872|ref|NP_001363660.1|

Protein
Mus musculus LIM and calponin homology domains 1 (Limch1), transcript variant 12...
Mus musculus LIM and calponin homology domains 1 (Limch1), transcript variant 12, mRNA
gi|2192942494|ref|NM_001401418.1|

Nucleotide
LIM and calponin homology domains-containing protein 1 isoform X12 [Mus musculus...
LIM and calponin homology domains-containing protein 1 isoform X12 [Mus musculus]
gi|1907167209|ref|XP_036021505.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003648368	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 22, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003648368

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 22, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003648368.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.160T>C (p.C54R) alteration is located in exon 3 (coding exon 2) of the MEGF11 gene. This alteration results from a T to C substitution at nucleotide position 160, causing the cysteine (C) at amino acid position 54 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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