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NM_152703.5(SAMD9L):c.2640C>T (p.His880=) AND SAMD9L-related disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 2, 2020
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:
RCV004539341.2

Allele description [Variation Report for NM_152703.5(SAMD9L):c.2640C>T (p.His880=)]

NM_152703.5(SAMD9L):c.2640C>T (p.His880=)

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.2640C>T (p.His880=)
HGVS:
  • NC_000007.14:g.93133332G>A
  • NG_053186.1:g.20070C>T
  • NM_001303496.3:c.2640C>T
  • NM_001303497.3:c.2640C>T
  • NM_001303498.3:c.2640C>T
  • NM_001303500.3:c.2640C>T
  • NM_001350082.2:c.2640C>T
  • NM_001350083.2:c.2640C>T
  • NM_001350084.2:c.2640C>T
  • NM_001350085.2:c.2640C>T
  • NM_152703.5:c.2640C>TMANE SELECT
  • NP_001290425.1:p.His880=
  • NP_001290426.1:p.His880=
  • NP_001290427.1:p.His880=
  • NP_001290429.1:p.His880=
  • NP_001337011.1:p.His880=
  • NP_001337012.1:p.His880=
  • NP_001337013.1:p.His880=
  • NP_001337014.1:p.His880=
  • NP_689916.2:p.His880=
  • NC_000007.13:g.92762645G>A
  • NM_152703.3:c.2640C>T
...more
Molecular consequence:
  • NM_001303496.3:c.2640C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001303497.3:c.2640C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001303498.3:c.2640C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001303500.3:c.2640C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350082.2:c.2640C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350083.2:c.2640C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350084.2:c.2640C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350085.2:c.2640C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_152703.5:c.2640C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
SAMD9L-related disorder
Synonyms:
SAMD9L-Related Disorders; SAMD9L-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004730577PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely benign
(Sep 2, 2020)
germlineclinical testing

Last Updated: Nov 10, 2024

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