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NM_138352.3(SAMD1):c.83C>A (p.Ser28Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 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:
RCV004296546.1

Allele description [Variation Report for NM_138352.3(SAMD1):c.83C>A (p.Ser28Tyr)]

NM_138352.3(SAMD1):c.83C>A (p.Ser28Tyr)

Genes:
LOC130063760:ATAC-STARR-seq lymphoblastoid silent region 10229 [Gene]
SAMD1:sterile alpha motif domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.12
Genomic location:
Preferred name:
NM_138352.3(SAMD1):c.83C>A (p.Ser28Tyr)
HGVS:
  • NC_000019.10:g.14090338G>T
  • NG_029699.1:g.32410C>A
  • NG_198177.1:g.332G>T
  • NM_138352.3:c.83C>AMANE SELECT
  • NP_612361.1:p.Ser28Tyr
  • NC_000019.9:g.14201150G>T
  • NM_138352.1:c.83C>A
Protein change:
S28Y
Molecular consequence:
  • NM_138352.3:c.83C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003953090Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 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, SCV003953090.2

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

Description

The c.83C>A (p.S28Y) alteration is located in exon (coding exon ) of the SAMD1 gene. This alteration results from a C to A substitution at nucleotide position 83, causing the serine (S) at amino acid position 28 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024