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NM_133455.4(EMID1):c.82G>A (p.Ala28Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 27, 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:
RCV004301407.1

Allele description [Variation Report for NM_133455.4(EMID1):c.82G>A (p.Ala28Thr)]

NM_133455.4(EMID1):c.82G>A (p.Ala28Thr)

Genes:
LOC130067175:ATAC-STARR-seq lymphoblastoid silent region 13586 [Gene]
EMID1:EMI domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_133455.4(EMID1):c.82G>A (p.Ala28Thr)
HGVS:
  • NC_000022.11:g.29206120G>A
  • NG_201589.1:g.230G>A
  • NG_201590.1:g.130G>A
  • NM_001267895.2:c.82G>A
  • NM_001410828.1:c.82G>A
  • NM_133455.4:c.82G>AMANE SELECT
  • NP_001254824.1:p.Ala28Thr
  • NP_001397757.1:p.Ala28Thr
  • NP_597712.2:p.Ala28Thr
  • NC_000022.10:g.29602109G>A
  • NM_133455.2:c.82G>A
Protein change:
A28T
Molecular consequence:
  • NM_001267895.2:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410828.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133455.4:c.82G>A - 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
SCV003962682Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 27, 2023) 		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, SCV003962682.2

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

Description

The c.82G>A (p.A28T) alteration is located in exon 1 (coding exon 1) of the EMID1 gene. This alteration results from a G to A substitution at nucleotide position 82, causing the alanine (A) at amino acid position 28 to be replaced by a threonine (T). 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 10, 2024