NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 17, 2018
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:: RCV000041689.7

Allele description [Variation Report for NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)]

NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)

HGVS:

NC_000001.11:g.215759666T>C
NG_009497.2:g.668783A>G
NM_206933.4:c.11225A>GMANE SELECT
NP_996816.3:p.Asn3742Ser
NC_000001.10:g.215933008T>C
NG_009497.1:g.668731A>G
NM_206933.2:c.11225A>G
c.11225A>G

Protein change:

N3742S

Links:

dbSNP: rs139921272

NCBI 1000 Genomes Browser:

rs139921272

Molecular consequence:

NM_206933.4:c.11225A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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LOC110537515 [Oncorhynchus mykiss]
LOC110537515 [Oncorhynchus mykiss]
Gene ID:110537515

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000065385	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Apr 17, 2018)	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

SCV000065385

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Apr 17, 2018)

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
not provided	germline	not provided	2	2	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000065385.6

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

Description

p.Asn3742Ser in exon 57 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.21% (50/24030) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org/; dbSNP rs139921272). In addition, computational prediction tools do not sug gest a high likelihood of impact to the protein. ACMG/AMP Criteria applied: BS1_ Supporting; BP4.

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

Last Updated: Oct 13, 2024

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