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NM_001130987.2(DYSF):c.396C>T (p.Pro132=) AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:
Benign (2 submissions)
Last evaluated:
Jul 30, 2021
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:
RCV001273963.4

Allele description [Variation Report for NM_001130987.2(DYSF):c.396C>T (p.Pro132=)]

NM_001130987.2(DYSF):c.396C>T (p.Pro132=)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)
HGVS:
  • NC_000002.12:g.71511857C>T
  • NG_008694.1:g.63235C>T
  • NM_001130455.2:c.396C>T
  • NM_001130976.2:c.393C>T
  • NM_001130977.2:c.393C>T
  • NM_001130978.2:c.393C>T
  • NM_001130979.2:c.393C>T
  • NM_001130980.2:c.393C>T
  • NM_001130981.2:c.393C>T
  • NM_001130982.2:c.396C>T
  • NM_001130983.2:c.396C>T
  • NM_001130984.2:c.396C>T
  • NM_001130985.2:c.396C>T
  • NM_001130986.2:c.396C>T
  • NM_001130987.2:c.396C>TMANE SELECT
  • NM_003494.4:c.393C>T
  • NP_001123927.1:p.Pro132=
  • NP_001124448.1:p.Pro131=
  • NP_001124449.1:p.Pro131=
  • NP_001124450.1:p.Pro131=
  • NP_001124451.1:p.Pro131=
  • NP_001124452.1:p.Pro131=
  • NP_001124453.1:p.Pro131=
  • NP_001124454.1:p.Pro132=
  • NP_001124455.1:p.Pro132=
  • NP_001124456.1:p.Pro132=
  • NP_001124457.1:p.Pro132=
  • NP_001124458.1:p.Pro132=
  • NP_001124459.1:p.Pro132=
  • NP_003485.1:p.Pro131=
  • LRG_845t1:c.393C>T
  • LRG_845t2:c.396C>T
  • LRG_845:g.63235C>T
  • LRG_845p1:p.Pro131=
  • LRG_845p2:p.Pro132=
  • NC_000002.11:g.71738987C>T
  • NM_001130987.1:c.396C>T
  • NM_003494.3:c.393C>T
  • NP_003485.1:p.(=)
  • p.Pro132Pro
Links:
dbSNP: rs34603128
NCBI 1000 Genomes Browser:
rs34603128
Molecular consequence:
  • NM_001130455.2:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130976.2:c.393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130977.2:c.393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130978.2:c.393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130979.2:c.393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130980.2:c.393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130981.2:c.393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130982.2:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130983.2:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130984.2:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130985.2:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130986.2:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130987.2:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003494.4:c.393C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMDR2)
Synonyms:
Limb-girdle muscular dystrophy, type 2B; Muscular dystrophy, limb-girdle, type 3; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2
Identifiers:
MONDO: MONDO:0009676; MedGen: C1850889; Orphanet: 268; OMIM: 253601

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001457599Natera, Inc.
no assertion criteria provided
Benign
(Sep 16, 2020) 		germlineclinical testing

SCV001875843Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 30, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Natera, Inc., SCV001457599.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Genome-Nilou Lab, SCV001875843.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024