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NM_001426.4(EN1):c.485G>C (p.Arg162Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 8, 2021
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:
RCV004119369.1

Allele description [Variation Report for NM_001426.4(EN1):c.485G>C (p.Arg162Pro)]

NM_001426.4(EN1):c.485G>C (p.Arg162Pro)

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.485G>C (p.Arg162Pro)
HGVS:
  • NC_000002.12:g.118846683C>G
  • NG_007123.1:g.6501G>C
  • NM_001426.4:c.485G>CMANE SELECT
  • NP_001417.3:p.Arg162Pro
  • NC_000002.11:g.119604259C>G
  • NM_001426.3:c.485G>C
Protein change:
R162P
Molecular consequence:
  • NM_001426.4:c.485G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003590890Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 8, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003590890.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.485G>C (p.R162P) 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 485, causing the arginine (R) at amino acid position 162 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024