NM_001253697.2(ERBIN):c.441T>A (p.Asp147Glu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 29, 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:: RCV001926940.5

Allele description

NM_001253697.2(ERBIN):c.441T>A (p.Asp147Glu)

Gene:

ERBIN:erbb2 interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q12.3

Genomic location:

Preferred name:

NM_001253697.2(ERBIN):c.441T>A (p.Asp147Glu)

HGVS:

NC_000005.10:g.66013603T>A
NG_031822.2:g.92050T>A
NM_001006600.3:c.441T>A
NM_001253697.2:c.441T>AMANE SELECT
NM_001253698.2:c.441T>A
NM_001253699.2:c.441T>A
NM_001253701.2:c.441T>A
NM_018695.4:c.441T>A
NP_001006600.1:p.Asp147Glu
NP_001240626.1:p.Asp147Glu
NP_001240627.1:p.Asp147Glu
NP_001240628.1:p.Asp147Glu
NP_001240630.1:p.Asp147Glu
NP_061165.1:p.Asp147Glu
NC_000005.9:g.65309431T>A
NG_031822.1:g.92050T>A

Protein change:

D147E

Links:

dbSNP: rs757550675

NCBI 1000 Genomes Browser:

rs757550675

Molecular consequence:

NM_001006600.3:c.441T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001253697.2:c.441T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001253698.2:c.441T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001253699.2:c.441T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001253701.2:c.441T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018695.4:c.441T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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uncharacterized protein LOC117129339 [Brassica rapa]
uncharacterized protein LOC117129339 [Brassica rapa]
gi|1827945153|ref|XP_033138837.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002205018	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 29, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002205018

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 29, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002205018.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1425829). This variant has not been reported in the literature in individuals affected with ERBIN-related conditions. This variant is present in population databases (rs757550675, gnomAD 0.005%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 147 of the ERBIN protein (p.Asp147Glu).

#	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: Feb 14, 2024

ClinVar

Relating variation to medicine