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:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000151994	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Benign (Feb 27, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000225463	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Nov 15, 2014)	germline	clinical testing	Citation Link,
SCV000614169	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Mar 15, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000151994

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Benign
(Feb 27, 2014)

germline

clinical testing

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

SCV000225463

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Nov 15, 2014)

germline

clinical testing

Citation Link,

SCV000614169

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Mar 15, 2017)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
	germline	unknown	2	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000225463.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From Athena Diagnostics, SCV000614169.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 25, 2025

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