U.S. flag

An official website of the United States government

NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=) AND Usher syndrome type 1F

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 27, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001826992.1

Allele description [Variation Report for NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=)]

NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=)

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=)
HGVS:
  • NC_000010.11:g.54132880G>A
  • NG_009191.3:g.1501303C>T
  • NM_001142763.2:c.1927C>T
  • NM_001142764.2:c.1912C>T
  • NM_001142765.2:c.1784+20220C>T
  • NM_001142766.2:c.1912C>T
  • NM_001142767.2:c.1801C>T
  • NM_001142768.2:c.1846C>T
  • NM_001142769.3:c.1948C>T
  • NM_001142770.3:c.1912C>T
  • NM_001142771.2:c.1927C>T
  • NM_001142772.2:c.1912C>T
  • NM_001142773.2:c.1846C>T
  • NM_001354404.2:c.1846C>T
  • NM_001354411.2:c.1933C>T
  • NM_001354420.2:c.1912C>T
  • NM_001354429.2:c.1912C>T
  • NM_001354430.2:c.1912C>T
  • NM_001384140.1:c.1912C>TMANE SELECT
  • NM_033056.4:c.1912C>T
  • NP_001136235.1:p.Leu643=
  • NP_001136236.1:p.Leu638=
  • NP_001136238.1:p.Leu638=
  • NP_001136239.1:p.Leu601=
  • NP_001136240.1:p.Leu616=
  • NP_001136241.1:p.Leu650=
  • NP_001136242.1:p.Leu638=
  • NP_001136243.1:p.Leu643=
  • NP_001136244.1:p.Leu638=
  • NP_001136245.1:p.Leu616=
  • NP_001341333.1:p.Leu616=
  • NP_001341340.1:p.Leu645=
  • NP_001341349.1:p.Leu638=
  • NP_001341358.1:p.Leu638=
  • NP_001341359.1:p.Leu638=
  • NP_001371069.1:p.Leu638=
  • NP_149045.3:p.Leu638=
  • NC_000010.10:g.55892640G>A
  • NM_033056.3:c.1912C>T
Links:
dbSNP: rs763230126
NCBI 1000 Genomes Browser:
rs763230126
Molecular consequence:
  • NM_001142765.2:c.1784+20220C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142763.2:c.1927C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142764.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142766.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142767.2:c.1801C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142768.2:c.1846C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142769.3:c.1948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142770.3:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142771.2:c.1927C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142772.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142773.2:c.1846C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354404.2:c.1846C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354411.2:c.1933C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354420.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354429.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354430.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001384140.1:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033056.4:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Usher syndrome type 1F (USH1F)
Synonyms:
USHER SYNDROME, TYPE IF
Identifiers:
MONDO: MONDO:0011186; MedGen: C1865885; Orphanet: 231169; Orphanet: 886; OMIM: 602083

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002088588Natera, Inc.
no assertion criteria provided
Likely benign
(Mar 27, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002088588.1

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

Last Updated: Sep 29, 2024