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

Germline classification:
Benign (3 submissions)
Last evaluated:
Mar 15, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000117741.16

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000151994Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)
Benign
(Feb 27, 2014)
germlineclinical testing

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

SCV000225463Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Nov 15, 2014)
germlineclinical testing

Citation Link,

SCV000614169Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
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 Eurofins Ntd Llc (ga), SCV000225463.6

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

From Athena Diagnostics, 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: May 25, 2025