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NM_018115.4(SDAD1):c.41C>T (p.Pro14Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 16, 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:
RCV004455236.1

Allele description [Variation Report for NM_018115.4(SDAD1):c.41C>T (p.Pro14Leu)]

NM_018115.4(SDAD1):c.41C>T (p.Pro14Leu)

Genes:
SDAD1:SDA1 domain containing 1 [Gene - HGNC]
SDAD1-AS1:SDAD1 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.1
Genomic location:
Preferred name:
NM_018115.4(SDAD1):c.41C>T (p.Pro14Leu)
HGVS:
  • NC_000004.12:g.75990801G>A
  • NM_001288983.2:c.41C>T
  • NM_001288984.2:c.-326C>T
  • NM_018115.4:c.41C>TMANE SELECT
  • NP_001275912.1:p.Pro14Leu
  • NP_060585.2:p.Pro14Leu
  • NC_000004.11:g.76911954G>A
  • NM_018115.2:c.41C>T
Protein change:
P14L
Molecular consequence:
  • NM_001288984.2:c.-326C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001288983.2:c.41C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018115.4:c.41C>T - 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
SCV004944361Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 16, 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, SCV004944361.1

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

Description

The c.41C>T (p.P14L) alteration is located in exon 1 (coding exon 1) of the SDAD1 gene. This alteration results from a C to T substitution at nucleotide position 41, causing the proline (P) at amino acid position 14 to be replaced by a leucine (L). 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: May 7, 2024