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NM_130897.3(DYNLRB2):c.152T>C (p.Met51Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 22, 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:
RCV004277308.1

Allele description [Variation Report for NM_130897.3(DYNLRB2):c.152T>C (p.Met51Thr)]

NM_130897.3(DYNLRB2):c.152T>C (p.Met51Thr)

Genes:
DYNLRB2-AS1:DYNLRB2 antisense RNA 1 [Gene - HGNC]
DYNLRB2:dynein light chain roadblock-type 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.2
Genomic location:
Preferred name:
NM_130897.3(DYNLRB2):c.152T>C (p.Met51Thr)
HGVS:
  • NC_000016.10:g.80549556T>C
  • NM_001305017.2:c.239T>C
  • NM_130897.3:c.152T>CMANE SELECT
  • NP_001291946.1:p.Met80Thr
  • NP_570967.1:p.Met51Thr
  • NC_000016.9:g.80583453T>C
  • NM_130897.1:c.152T>C
  • NR_130942.2:n.777T>C
  • NR_130943.2:n.326T>C
Protein change:
M51T
Molecular consequence:
  • NM_001305017.2:c.239T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130897.3:c.152T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_130942.2:n.777T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_130943.2:n.326T>C - 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
SCV003907330Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 22, 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, SCV003907330.2

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

Description

The c.152T>C (p.M51T) alteration is located in exon 3 (coding exon 3) of the DYNLRB2 gene. This alteration results from a T to C substitution at nucleotide position 152, causing the methionine (M) at amino acid position 51 to be replaced by a threonine (T). 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