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NM_152703.5(SAMD9L):c.4009G>A (p.Ala1337Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 22, 2023
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:
RCV003830505.2

Allele description [Variation Report for NM_152703.5(SAMD9L):c.4009G>A (p.Ala1337Thr)]

NM_152703.5(SAMD9L):c.4009G>A (p.Ala1337Thr)

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.4009G>A (p.Ala1337Thr)
HGVS:
  • NC_000007.14:g.93131963C>T
  • NG_053186.1:g.21439G>A
  • NM_001303496.3:c.4009G>A
  • NM_001303497.3:c.4009G>A
  • NM_001303498.3:c.4009G>A
  • NM_001303500.3:c.4009G>A
  • NM_001350082.2:c.4009G>A
  • NM_001350083.2:c.4009G>A
  • NM_001350084.2:c.4009G>A
  • NM_001350085.2:c.4009G>A
  • NM_152703.5:c.4009G>AMANE SELECT
  • NP_001290425.1:p.Ala1337Thr
  • NP_001290426.1:p.Ala1337Thr
  • NP_001290427.1:p.Ala1337Thr
  • NP_001290429.1:p.Ala1337Thr
  • NP_001337011.1:p.Ala1337Thr
  • NP_001337012.1:p.Ala1337Thr
  • NP_001337013.1:p.Ala1337Thr
  • NP_001337014.1:p.Ala1337Thr
  • NP_689916.2:p.Ala1337Thr
  • NC_000007.13:g.92761276C>T
...more
Protein change:
A1337T
Molecular consequence:
  • NM_001303496.3:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303497.3:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303498.3:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303500.3:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350082.2:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350083.2:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350084.2:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350085.2:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152703.5:c.4009G>A - 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
SCV004633194Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Sep 22, 2023)
germlineclinical testing

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

Last Updated: Sep 29, 2024

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