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NM_152703.5(SAMD9L):c.1398C>A (p.Asn466Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 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:
RCV004450038.1

Allele description [Variation Report for NM_152703.5(SAMD9L):c.1398C>A (p.Asn466Lys)]

NM_152703.5(SAMD9L):c.1398C>A (p.Asn466Lys)

Gene:
SAMD9L:sterile alpha motif domain containing 9 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_152703.5(SAMD9L):c.1398C>A (p.Asn466Lys)
HGVS:
  • NC_000007.14:g.93134574G>T
  • NG_053186.1:g.18828C>A
  • NM_001303496.3:c.1398C>A
  • NM_001303497.3:c.1398C>A
  • NM_001303498.3:c.1398C>A
  • NM_001303500.3:c.1398C>A
  • NM_001350082.2:c.1398C>A
  • NM_001350083.2:c.1398C>A
  • NM_001350084.2:c.1398C>A
  • NM_001350085.2:c.1398C>A
  • NM_152703.5:c.1398C>AMANE SELECT
  • NP_001290425.1:p.Asn466Lys
  • NP_001290426.1:p.Asn466Lys
  • NP_001290427.1:p.Asn466Lys
  • NP_001290429.1:p.Asn466Lys
  • NP_001337011.1:p.Asn466Lys
  • NP_001337012.1:p.Asn466Lys
  • NP_001337013.1:p.Asn466Lys
  • NP_001337014.1:p.Asn466Lys
  • NP_689916.2:p.Asn466Lys
  • NC_000007.13:g.92763887G>T
  • NM_152703.2:c.1398C>A
...more
Protein change:
N466K
Molecular consequence:
  • NM_001303496.3:c.1398C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303497.3:c.1398C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303498.3:c.1398C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303500.3:c.1398C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350082.2:c.1398C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350083.2:c.1398C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350084.2:c.1398C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350085.2:c.1398C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152703.5:c.1398C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004944936Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Mar 1, 2024)
germlineclinical testing

Citation Link

Last Updated: May 7, 2024

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