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NM_152703.5(SAMD9L):c.3561A>G (p.Arg1187=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 26, 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:
RCV003833973.2

Allele description [Variation Report for NM_152703.5(SAMD9L):c.3561A>G (p.Arg1187=)]

NM_152703.5(SAMD9L):c.3561A>G (p.Arg1187=)

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.3561A>G (p.Arg1187=)
HGVS:
  • NC_000007.14:g.93132411T>C
  • NG_053186.1:g.20991A>G
  • NM_001303496.3:c.3561A>G
  • NM_001303497.3:c.3561A>G
  • NM_001303498.3:c.3561A>G
  • NM_001303500.3:c.3561A>G
  • NM_001350082.2:c.3561A>G
  • NM_001350083.2:c.3561A>G
  • NM_001350084.2:c.3561A>G
  • NM_001350085.2:c.3561A>G
  • NM_152703.5:c.3561A>GMANE SELECT
  • NP_001290425.1:p.Arg1187=
  • NP_001290426.1:p.Arg1187=
  • NP_001290427.1:p.Arg1187=
  • NP_001290429.1:p.Arg1187=
  • NP_001337011.1:p.Arg1187=
  • NP_001337012.1:p.Arg1187=
  • NP_001337013.1:p.Arg1187=
  • NP_001337014.1:p.Arg1187=
  • NP_689916.2:p.Arg1187=
  • NC_000007.13:g.92761724T>C
...more
Molecular consequence:
  • NM_001303496.3:c.3561A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001303497.3:c.3561A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001303498.3:c.3561A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001303500.3:c.3561A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350082.2:c.3561A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350083.2:c.3561A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350084.2:c.3561A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001350085.2:c.3561A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_152703.5:c.3561A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV004634727Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Mar 26, 2023)
germlineclinical testing

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

Last Updated: Sep 29, 2024

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