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NM_152703.5(SAMD9L):c.2309del (p.Lys770fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 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:
RCV004576040.5

Allele description [Variation Report for NM_152703.5(SAMD9L):c.2309del (p.Lys770fs)]

NM_152703.5(SAMD9L):c.2309del (p.Lys770fs)

Gene:
SAMD9L:sterile alpha motif domain containing 9 like [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_152703.5(SAMD9L):c.2309del (p.Lys770fs)
HGVS:
  • NC_000007.14:g.93133664del
  • NG_053186.1:g.19739del
  • NM_001303496.3:c.2309del
  • NM_001303497.3:c.2309del
  • NM_001303498.3:c.2309del
  • NM_001303500.3:c.2309del
  • NM_001350082.2:c.2309del
  • NM_001350083.2:c.2309del
  • NM_001350084.2:c.2309del
  • NM_001350085.2:c.2309del
  • NM_152703.5:c.2309delMANE SELECT
  • NP_001290425.1:p.Lys770fs
  • NP_001290426.1:p.Lys770fs
  • NP_001290427.1:p.Lys770fs
  • NP_001290429.1:p.Lys770fs
  • NP_001337011.1:p.Lys770fs
  • NP_001337012.1:p.Lys770fs
  • NP_001337013.1:p.Lys770fs
  • NP_001337014.1:p.Lys770fs
  • NP_689916.2:p.Lys770fs
  • NC_000007.13:g.92762977del
...more
Protein change:
K770fs
Molecular consequence:
  • NM_001303496.3:c.2309del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001303497.3:c.2309del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001303498.3:c.2309del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001303500.3:c.2309del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350082.2:c.2309del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350083.2:c.2309del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350084.2:c.2309del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001350085.2:c.2309del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152703.5:c.2309del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV005050538CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely pathogenic
(May 1, 2024)
germlineclinical testing

Citation Link

Last Updated: Oct 20, 2024

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