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NM_020828.2(ZFP28):c.58G>A (p.Ala20Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 6, 2021
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:
RCV004211069.1

Allele description [Variation Report for NM_020828.2(ZFP28):c.58G>A (p.Ala20Thr)]

NM_020828.2(ZFP28):c.58G>A (p.Ala20Thr)

Gene:
ZFP28:ZFP28 zinc finger protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.43
Genomic location:
Preferred name:
NM_020828.2(ZFP28):c.58G>A (p.Ala20Thr)
HGVS:
  • NC_000019.10:g.56539076G>A
  • NM_001308440.2:c.58G>A
  • NM_020828.2:c.58G>AMANE SELECT
  • NP_001295369.1:p.Ala20Thr
  • NP_065879.1:p.Ala20Thr
  • NC_000019.9:g.57050445G>A
  • NM_020828.1:c.58G>A
...more
Protein change:
A20T
Molecular consequence:
  • NM_001308440.2:c.58G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020828.2:c.58G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003720939Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 6, 2021)
germlineclinical testing

Citation Link

Last Updated: Nov 24, 2024

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