NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) AND not specified

Clinical significance:Benign (Last evaluated: Mar 15, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000117741.7

Allele description [Variation Report for NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)]

NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)

Genes:
NEB:nebulin [Gene - OMIM - HGNC]
RIF1:replication timing regulatory factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.3
Genomic location:
Preferred name:
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)
HGVS:
  • NC_000002.12:g.151529225G>A
  • NG_009382.2:g.210263C>T
  • NM_001164507.2:c.21720C>T
  • NM_001164508.2:c.21720C>TMANE SELECT
  • NM_001271208.2:c.21825C>T
  • NM_004543.5:c.16617C>T
  • NP_001157979.2:p.Tyr7240=
  • NP_001157980.2:p.Tyr7240=
  • NP_001258137.2:p.Tyr7275=
  • NP_004534.3:p.Tyr5539=
  • LRG_202t1:c.21825C>T
  • LRG_202:g.210263C>T
  • NC_000002.11:g.152385739G>A
  • NM_001271208.1:c.21825C>T
  • NM_004543.4:c.16617C>T
  • p.Tyr7275Tyr
Links:
dbSNP: rs34718443
NCBI 1000 Genomes Browser:
rs34718443
Molecular consequence:
  • NM_001164507.2:c.21720C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001164508.2:c.21720C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001271208.2:c.21825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004543.5:c.16617C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000151994Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Benign
(Feb 27, 2014)
germlineclinical testing

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

SCV000225463EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Nov 15, 2014)
germlineclinical testing

Citation Link,

SCV000614169Athena Diagnostics Inccriteria provided, single submitter
Benign
(Mar 15, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
germlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000151994.1

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000225463.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Athena Diagnostics Inc, SCV000614169.1

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

Last Updated: Nov 27, 2021

Support Center