NM_001385028.1(MEGF11):c.1467C>G (p.Cys489Trp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 16, 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:: RCV004423959.1

Allele description [Variation Report for NM_001385028.1(MEGF11):c.1467C>G (p.Cys489Trp)]

NM_001385028.1(MEGF11):c.1467C>G (p.Cys489Trp)

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.1467C>G (p.Cys489Trp)

HGVS:

NC_000015.10:g.65929825G>C
NM_001385028.1:c.1467C>GMANE SELECT
NM_001385029.1:c.1467C>G
NM_001385030.1:c.1242C>G
NM_001385031.1:c.1227C>G
NM_001385032.1:c.1227C>G
NM_001385033.1:c.1467C>G
NM_001387150.1:c.1467C>G
NM_001387151.1:c.1467C>G
NM_032445.3:c.1467C>G
NP_001371957.1:p.Cys489Trp
NP_001371958.1:p.Cys489Trp
NP_001371959.1:p.Cys414Trp
NP_001371960.1:p.Cys409Trp
NP_001371961.1:p.Cys409Trp
NP_001371962.1:p.Cys489Trp
NP_001374079.1:p.Cys489Trp
NP_001374080.1:p.Cys489Trp
NP_115821.2:p.Cys489Trp
NC_000015.9:g.66222163G>C
NM_032445.2:c.1467C>G
NR_169554.1:n.1515C>G
NR_169555.1:n.1515C>G
NR_169556.1:n.1621C>G
NR_169557.1:n.1621C>G
NR_169558.1:n.1621C>G

Protein change:

C409W

Molecular consequence:

NM_001385028.1:c.1467C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385029.1:c.1467C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385030.1:c.1242C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385031.1:c.1227C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385032.1:c.1227C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385033.1:c.1467C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387150.1:c.1467C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387151.1:c.1467C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_032445.3:c.1467C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_169554.1:n.1515C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169555.1:n.1515C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169556.1:n.1621C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169557.1:n.1621C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169558.1:n.1621C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Felis catus homeodomain interacting protein kinase 2 (HIPK2), transcr...
PREDICTED: Felis catus homeodomain interacting protein kinase 2 (HIPK2), transcript variant X6, mRNA
gi|2130926484|ref|XM_023250621.2|

Nucleotide
PREDICTED: Felis catus homeodomain interacting protein kinase 2 (HIPK2), transcr...
PREDICTED: Felis catus homeodomain interacting protein kinase 2 (HIPK2), transcript variant X5, mRNA
gi|2130926480|ref|XM_045052837.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004903893	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 16, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004903893

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 16, 2023)

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, SCV004903893.1

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

Description

The c.1467C>G (p.C489W) alteration is located in exon 12 (coding exon 11) of the MEGF11 gene. This alteration results from a C to G substitution at nucleotide position 1467, causing the cysteine (C) at amino acid position 489 to be replaced by a tryptophan (W). 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: May 7, 2024

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