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NM_020203.6(MEPE):c.1346A>C (p.Asn449Thr) AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Dec 31, 2019
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:
RCV000946797.5

Allele description [Variation Report for NM_020203.6(MEPE):c.1346A>C (p.Asn449Thr)]

NM_020203.6(MEPE):c.1346A>C (p.Asn449Thr)

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.1346A>C (p.Asn449Thr)
HGVS:
  • NC_000004.12:g.87846214A>C
  • NG_034073.1:g.29817A>C
  • NM_001184694.3:c.1346A>C
  • NM_001184695.4:c.1007A>C
  • NM_001184696.2:c.1007A>C
  • NM_001184697.2:c.1007A>C
  • NM_001291183.2:c.1439A>C
  • NM_020203.6:c.1346A>CMANE SELECT
  • NP_001171623.1:p.Asn449Thr
  • NP_001171624.1:p.Asn336Thr
  • NP_001171625.1:p.Asn336Thr
  • NP_001171626.1:p.Asn336Thr
  • NP_001278112.1:p.Asn480Thr
  • NP_001278112.1:p.Asn480Thr
  • NP_064588.1:p.Asn449Thr
  • NC_000004.11:g.88767366A>C
  • NM_001291183.1:c.1439A>C
...more
Protein change:
N336T
Links:
dbSNP: rs61731017
NCBI 1000 Genomes Browser:
rs61731017
Molecular consequence:
  • NM_001184694.3:c.1346A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184695.4:c.1007A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184696.2:c.1007A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184697.2:c.1007A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291183.2:c.1439A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020203.6:c.1346A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001092948Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Dec 31, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV005303307Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlinenot provided

PubMed (1)
[See all records that cite this PMID]

Last Updated: Oct 13, 2024

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