NM_080863.5(ASB16):c.1049C>T (p.Pro350Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 21, 2024
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:
RCV004420557.1

Allele description [Variation Report for NM_080863.5(ASB16):c.1049C>T (p.Pro350Leu)]

NM_080863.5(ASB16):c.1049C>T (p.Pro350Leu)

Genes:
ASB16-AS1:ASB16 antisense RNA 1 [Gene - HGNC]
ASB16:ankyrin repeat and SOCS box containing 16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_080863.5(ASB16):c.1049C>T (p.Pro350Leu)
HGVS:
  • NC_000017.11:g.44177217C>T
  • NM_080863.5:c.1049C>TMANE SELECT
  • NP_543139.4:p.Pro350Leu
  • NC_000017.10:g.42254585C>T
  • NM_080863.4:c.1049C>T
  • NR_049729.1:n.1015G>A
Protein change:
P350L
Molecular consequence:
  • NM_080863.5:c.1049C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_049729.1:n.1015G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004910118Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 21, 2024) 		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, SCV004910118.1

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

Description

The c.1049C>T (p.P350L) alteration is located in exon 3 (coding exon 3) of the ASB16 gene. This alteration results from a C to T substitution at nucleotide position 1049, causing the proline (P) at amino acid position 350 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