NM_001142616.3(EHBP1):c.3405A>T (p.Glu1135Asp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 2, 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:: RCV004377550.1

Allele description [Variation Report for NM_001142616.3(EHBP1):c.3405A>T (p.Glu1135Asp)]

NM_001142616.3(EHBP1):c.3405A>T (p.Glu1135Asp)

Genes:

EHBP1:EH domain binding protein 1 [Gene - OMIM - HGNC]
EHBP1-AS1:EHBP1 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p15

Genomic location:

Preferred name:

NM_001142616.3(EHBP1):c.3405A>T (p.Glu1135Asp)

HGVS:

NC_000002.12:g.63045422A>T
NG_016758.2:g.376572A>T
NG_095337.1:g.779A>T
NM_001142614.2:c.3513A>T
NM_001142615.3:c.3405A>T
NM_001142616.3:c.3405A>TMANE SELECT
NM_001354212.1:c.3618A>T
NM_001354213.1:c.3618A>T
NM_001354214.1:c.3618A>T
NM_001354215.1:c.3615A>T
NM_001354216.2:c.3615A>T
NM_001354217.1:c.3510A>T
NM_001354218.1:c.3405A>T
NM_001354219.2:c.3402A>T
NM_001354220.1:c.3402A>T
NM_001354221.2:c.2772A>T
NM_001354222.2:c.2559A>T
NM_015252.5:c.3618A>T
NP_001136086.1:p.Glu1171Asp
NP_001136087.1:p.Glu1135Asp
NP_001136088.1:p.Glu1135Asp
NP_001341141.1:p.Glu1206Asp
NP_001341142.1:p.Glu1206Asp
NP_001341143.1:p.Glu1206Asp
NP_001341144.1:p.Glu1205Asp
NP_001341145.1:p.Glu1205Asp
NP_001341146.1:p.Glu1170Asp
NP_001341147.1:p.Glu1135Asp
NP_001341148.1:p.Glu1134Asp
NP_001341149.1:p.Glu1134Asp
NP_001341150.1:p.Glu924Asp
NP_001341151.1:p.Glu853Asp
NP_056067.2:p.Glu1206Asp
NC_000002.11:g.63272557A>T
NM_015252.3:c.3618A>T
NR_027069.1:n.569T>A
NR_033389.1:n.429T>A

Protein change:

E1134D

Molecular consequence:

NM_001142614.2:c.3513A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001142615.3:c.3405A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001142616.3:c.3405A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354212.1:c.3618A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354213.1:c.3618A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354214.1:c.3618A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354215.1:c.3615A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354216.2:c.3615A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354217.1:c.3510A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354218.1:c.3405A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354219.2:c.3402A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354220.1:c.3402A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354221.2:c.2772A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354222.2:c.2559A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_015252.5:c.3618A>T - missense variant - [Sequence Ontology: SO:0001583]
NR_027069.1:n.569T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_033389.1:n.429T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004863881	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 2, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004863881

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 2, 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, SCV004863881.1

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

Description

The c.3618A>T (p.E1206D) alteration is located in exon 25 (coding exon 24) of the EHBP1 gene. This alteration results from a A to T substitution at nucleotide position 3618, causing the glutamic acid (E) at amino acid position 1206 to be replaced by an aspartic acid (D). 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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