NM_001385028.1(MEGF11):c.797C>T (p.Thr266Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 5, 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:: RCV004423977.1

Allele description [Variation Report for NM_001385028.1(MEGF11):c.797C>T (p.Thr266Ile)]

NM_001385028.1(MEGF11):c.797C>T (p.Thr266Ile)

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.797C>T (p.Thr266Ile)

HGVS:

NC_000015.10:g.65970655G>A
NM_001385028.1:c.797C>TMANE SELECT
NM_001385029.1:c.797C>T
NM_001385030.1:c.572C>T
NM_001385031.1:c.557C>T
NM_001385032.1:c.557C>T
NM_001385033.1:c.797C>T
NM_001387150.1:c.797C>T
NM_001387151.1:c.797C>T
NM_032445.3:c.797C>T
NP_001371957.1:p.Thr266Ile
NP_001371958.1:p.Thr266Ile
NP_001371959.1:p.Thr191Ile
NP_001371960.1:p.Thr186Ile
NP_001371961.1:p.Thr186Ile
NP_001371962.1:p.Thr266Ile
NP_001374079.1:p.Thr266Ile
NP_001374080.1:p.Thr266Ile
NP_115821.2:p.Thr266Ile
NC_000015.9:g.66262993G>A
NM_032445.2:c.797C>T
NR_169554.1:n.845C>T
NR_169555.1:n.845C>T
NR_169556.1:n.951C>T
NR_169557.1:n.951C>T
NR_169558.1:n.951C>T

Protein change:

T186I

Molecular consequence:

NM_001385028.1:c.797C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001385029.1:c.797C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001385030.1:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001385031.1:c.557C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001385032.1:c.557C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001385033.1:c.797C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001387150.1:c.797C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001387151.1:c.797C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032445.3:c.797C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_169554.1:n.845C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169555.1:n.845C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169556.1:n.951C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169557.1:n.951C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169558.1:n.951C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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poly(rC)-binding protein 3 isoform X5 [Mus musculus]
poly(rC)-binding protein 3 isoform X5 [Mus musculus]
gi|1720361858|ref|XP_030101053.1|

Protein
LIM and calponin homology domains-containing protein 1 isoform 12 [Mus musculus]
LIM and calponin homology domains-containing protein 1 isoform 12 [Mus musculus]
gi|2192942495|ref|NP_001388347.1|

Protein
Chenopodium acerifolium isolate S168 ribosomal protein L32 (rpl32) gene, partial...
Chenopodium acerifolium isolate S168 ribosomal protein L32 (rpl32) gene, partial cds; and rpl32-trnL intergenic spacer, partial sequence; chloroplast
gi|2591514612|gb|OM001612.1|

Nucleotide
phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 1 [Mus musculus]
phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 1 [Mus musculus]
gi|125490368|ref|NP_032871.3|

Protein
RecName: Full=Myeloid-associated differentiation marker; AltName: Full=Myeloid u...
RecName: Full=Myeloid-associated differentiation marker; AltName: Full=Myeloid up-regulated protein
gi|94730398|sp|O35682.2|MYADM_MOUSE

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004903911	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 5, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004903911

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 5, 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, SCV004903911.1

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

Description

The c.797C>T (p.T266I) alteration is located in exon 8 (coding exon 7) of the MEGF11 gene. This alteration results from a C to T substitution at nucleotide position 797, causing the threonine (T) at amino acid position 266 to be replaced by an isoleucine (I). 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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