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NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 28, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004029420.1

Allele description [Variation Report for NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His)]

NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His)

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.4394G>A (p.Arg1465His)
HGVS:
  • NC_000007.14:g.93131578C>T
  • NG_053186.1:g.21824G>A
  • NM_001303496.3:c.4394G>A
  • NM_001303497.3:c.4394G>A
  • NM_001303498.3:c.4394G>A
  • NM_001303500.3:c.4394G>A
  • NM_001350082.2:c.4394G>A
  • NM_001350083.2:c.4394G>A
  • NM_001350084.2:c.4394G>A
  • NM_001350085.2:c.4394G>A
  • NM_152703.2:c.4394G>A
  • NM_152703.5:c.4394G>AMANE SELECT
  • NP_001290425.1:p.Arg1465His
  • NP_001290426.1:p.Arg1465His
  • NP_001290427.1:p.Arg1465His
  • NP_001290429.1:p.Arg1465His
  • NP_001337011.1:p.Arg1465His
  • NP_001337012.1:p.Arg1465His
  • NP_001337013.1:p.Arg1465His
  • NP_001337014.1:p.Arg1465His
  • NP_689916.2:p.Arg1465His
  • NC_000007.13:g.92760891C>T
  • NM_001303496.1:c.4394G>A
  • NM_001303497.1:c.4394G>A
  • NM_152703.3:c.4394G>A
Protein change:
R1465H
Links:
dbSNP: rs190393069
NCBI 1000 Genomes Browser:
rs190393069
Molecular consequence:
  • NM_001303496.3:c.4394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303497.3:c.4394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303498.3:c.4394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303500.3:c.4394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350082.2:c.4394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350083.2:c.4394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350084.2:c.4394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350085.2:c.4394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152703.5:c.4394G>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004944949Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 28, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004944949.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024