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NM_021907.5(DTNB):c.1756A>C (p.Asn586His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 30, 2022
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:
RCV004225123.1

Allele description [Variation Report for NM_021907.5(DTNB):c.1756A>C (p.Asn586His)]

NM_021907.5(DTNB):c.1756A>C (p.Asn586His)

Gene:
DTNB:dystrobrevin beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_021907.5(DTNB):c.1756A>C (p.Asn586His)
HGVS:
  • NC_000002.12:g.25387358T>G
  • NM_001256303.2:c.1735A>C
  • NM_001256304.3:c.1735A>C
  • NM_001256308.2:c.1564A>C
  • NM_001320932.2:c.1123A>C
  • NM_001320933.2:c.1645A>C
  • NM_001320934.2:c.1666A>C
  • NM_001320935.2:c.1123A>C
  • NM_001320936.2:c.1756A>C
  • NM_001351381.2:c.1225A>C
  • NM_001351382.2:c.1666A>C
  • NM_001351383.2:c.1663+844A>C
  • NM_001351384.2:c.1714+844A>C
  • NM_001351385.2:c.1663A>C
  • NM_001351386.2:c.1645A>C
  • NM_001351387.2:c.1684A>C
  • NM_001351388.2:c.1735+844A>C
  • NM_001351390.2:c.1645+844A>C
  • NM_001351391.2:c.1645A>C
  • NM_001351392.2:c.1225A>C
  • NM_001351393.2:c.1204+844A>C
  • NM_001351394.2:c.1576-8035A>C
  • NM_001351395.2:c.820A>C
  • NM_001394686.1:c.1294A>C
  • NM_021907.5:c.1756A>CMANE SELECT
  • NM_033147.4:c.1735+844A>C
  • NM_033148.4:c.1645+844A>C
  • NM_183360.3:c.1756A>C
  • NM_183361.3:c.1624+844A>C
  • NP_001243232.1:p.Asn579His
  • NP_001243233.1:p.Asn579His
  • NP_001243237.1:p.Asn522His
  • NP_001307861.1:p.Asn375His
  • NP_001307862.1:p.Asn549His
  • NP_001307863.1:p.Asn556His
  • NP_001307864.1:p.Asn375His
  • NP_001307865.1:p.Asn586His
  • NP_001338310.1:p.Asn409His
  • NP_001338311.1:p.Asn556His
  • NP_001338314.1:p.Asn555His
  • NP_001338315.1:p.Asn549His
  • NP_001338316.1:p.Asn562His
  • NP_001338320.1:p.Asn549His
  • NP_001338321.1:p.Asn409His
  • NP_001338324.1:p.Asn274His
  • NP_001381615.1:p.Asn432His
  • NP_068707.1:p.Asn586His
  • NP_899204.1:p.Asn586His
  • NC_000002.11:g.25610227T>G
  • NM_021907.3:c.1756A>C
  • NR_147180.2:n.1859A>C
Protein change:
N274H
Molecular consequence:
  • NM_001351383.2:c.1663+844A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351384.2:c.1714+844A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351388.2:c.1735+844A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351390.2:c.1645+844A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351393.2:c.1204+844A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351394.2:c.1576-8035A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033147.4:c.1735+844A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033148.4:c.1645+844A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_183361.3:c.1624+844A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256303.2:c.1735A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256304.3:c.1735A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256308.2:c.1564A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320932.2:c.1123A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320933.2:c.1645A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320934.2:c.1666A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320935.2:c.1123A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320936.2:c.1756A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351381.2:c.1225A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351382.2:c.1666A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351385.2:c.1663A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351386.2:c.1645A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351387.2:c.1684A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351391.2:c.1645A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351392.2:c.1225A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351395.2:c.820A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394686.1:c.1294A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021907.5:c.1756A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183360.3:c.1756A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147180.2:n.1859A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003735270Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 30, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003735270.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1756A>C (p.N586H) alteration is located in exon 18 (coding exon 17) of the DTNB gene. This alteration results from a A to C substitution at nucleotide position 1756, causing the asparagine (N) at amino acid position 586 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024