NM_001426.4(EN1):c.259G>C (p.Ala87Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 31, 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:: RCV004082360.1

Allele description [Variation Report for NM_001426.4(EN1):c.259G>C (p.Ala87Pro)]

NM_001426.4(EN1):c.259G>C (p.Ala87Pro)

Gene:

EN1:engrailed homeobox 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.2

Genomic location:

Preferred name:

NM_001426.4(EN1):c.259G>C (p.Ala87Pro)

HGVS:

NC_000002.12:g.118846909C>G
NG_007123.1:g.6275G>C
NM_001426.4:c.259G>CMANE SELECT
NP_001417.3:p.Ala87Pro
NC_000002.11:g.119604485C>G
NM_001426.3:c.259G>C

Protein change:

A87P

Molecular consequence:

NM_001426.4:c.259G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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SAMN39625467 (1)
SRA
PREDICTED: Homo sapiens YTH N6-methyladenosine RNA binding protein C2 (YTHDC2), ...
PREDICTED: Homo sapiens YTH N6-methyladenosine RNA binding protein C2 (YTHDC2), transcript variant X7, mRNA
gi|2462603698|ref|XM_054353156.1|

Nucleotide
Danio rerio zgc:136858 (zgc:136858), mRNA
Danio rerio zgc:136858 (zgc:136858), mRNA
gi|94536979|ref|NM_001040302.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003541091	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 31, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003541091

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 31, 2022)

germline

clinical testing

Citation Link

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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, SCV003541091.2

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

Description

The c.259G>C (p.A87P) alteration is located in exon 1 (coding exon 1) of the EN1 gene. This alteration results from a G to C substitution at nucleotide position 259, causing the alanine (A) at amino acid position 87 to be replaced by a proline (P). 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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