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NM_020203.6(MEPE):c.430G>A (p.Ala144Thr) AND MEPE-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 2023
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV003894635.2

Allele description [Variation Report for NM_020203.6(MEPE):c.430G>A (p.Ala144Thr)]

NM_020203.6(MEPE):c.430G>A (p.Ala144Thr)

Gene:
MEPE:matrix extracellular phosphoglycoprotein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q22.1
Genomic location:
Preferred name:
NM_020203.6(MEPE):c.430G>A (p.Ala144Thr)
HGVS:
  • NC_000004.12:g.87845298G>A
  • NG_034073.1:g.28901G>A
  • NM_001184694.3:c.430G>A
  • NM_001184695.4:c.91G>A
  • NM_001184696.2:c.91G>A
  • NM_001184697.2:c.91G>A
  • NM_001291183.2:c.523G>A
  • NM_020203.6:c.430G>AMANE SELECT
  • NP_001171623.1:p.Ala144Thr
  • NP_001171624.1:p.Ala31Thr
  • NP_001171625.1:p.Ala31Thr
  • NP_001171626.1:p.Ala31Thr
  • NP_001278112.1:p.Ala175Thr
  • NP_064588.1:p.Ala144Thr
  • NC_000004.11:g.88766450G>A
  • NM_001291183.1:c.523G>A
...more
Protein change:
A144T
Molecular consequence:
  • NM_001184694.3:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184695.4:c.91G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184696.2:c.91G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184697.2:c.91G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291183.2:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020203.6:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MEPE-related disorder
Synonyms:
MEPE-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004709370PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Dec 6, 2023)
germlineclinical testing

Last Updated: Oct 13, 2024

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