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NM_182572.4(ZSCAN1):c.886G>A (p.Asp296Asn) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2024
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:
RCV004603817.1

Allele description [Variation Report for NM_182572.4(ZSCAN1):c.886G>A (p.Asp296Asn)]

NM_182572.4(ZSCAN1):c.886G>A (p.Asp296Asn)

Gene:
ZSCAN1:zinc finger and SCAN domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.43
Genomic location:
Preferred name:
NM_182572.4(ZSCAN1):c.886G>A (p.Asp296Asn)
HGVS:
  • NC_000019.10:g.58053710G>A
  • NM_182572.4:c.886G>AMANE SELECT
  • NP_872378.3:p.Asp296Asn
  • NC_000019.9:g.58565078G>A
  • NM_182572.3:c.886G>A
Protein change:
D296N
Molecular consequence:
  • NM_182572.4:c.886G>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
SCV005099925Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Apr 12, 2024)
germlineclinical testing

Citation Link

Last Updated: Aug 11, 2024

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