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NM_004568.6(SERPINB6):c.573+26A>G AND Autosomal recessive nonsyndromic hearing loss 91

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 15, 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:
RCV001807457.2

Allele description [Variation Report for NM_004568.6(SERPINB6):c.573+26A>G]

NM_004568.6(SERPINB6):c.573+26A>G

Gene:
SERPINB6:serpin family B member 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p25.2
Genomic location:
Preferred name:
NM_004568.6(SERPINB6):c.573+26A>G
HGVS:
  • NC_000006.12:g.2953018T>C
  • NG_027692.1:g.24148A>G
  • NM_001195291.3:c.585+26A>G
  • NM_001271822.2:c.615+26A>G
  • NM_001271823.2:c.630+26A>G
  • NM_001271824.2:c.573+26A>G
  • NM_001271825.2:c.573+26A>G
  • NM_001297699.2:c.573+26A>G
  • NM_001297700.2:c.573+26A>G
  • NM_001374515.1:c.585+26A>G
  • NM_001374516.1:c.573+26A>G
  • NM_001374517.1:c.441+26A>G
  • NM_004568.6:c.573+26A>GMANE SELECT
  • NC_000006.11:g.2953252T>C
Links:
dbSNP: rs2244693
NCBI 1000 Genomes Browser:
rs2244693
Molecular consequence:
  • NM_001195291.3:c.585+26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271822.2:c.615+26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271823.2:c.630+26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271824.2:c.573+26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271825.2:c.573+26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001297699.2:c.573+26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001297700.2:c.573+26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374515.1:c.585+26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374516.1:c.573+26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374517.1:c.441+26A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004568.6:c.573+26A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 91
Synonyms:
Deafness, autosomal recessive 91
Identifiers:
MONDO: MONDO:0013269; MedGen: C3150704; Orphanet: 90636; OMIM: 613453

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002054776Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 15, 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

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 Genome-Nilou Lab, SCV002054776.1

#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: Dec 24, 2023