NM_022124.6(CDH23):c.-45AGGCG[4] AND not provided

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: May 27, 2022
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:: RCV001636864.4

Allele description [Variation Report for NM_022124.6(CDH23):c.-45AGGCG[4]]

NM_022124.6(CDH23):c.-45AGGCG[4]

Gene:

CDH23:cadherin related 23 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_022124.6(CDH23):c.-45AGGCG[4]

HGVS:

NC_000010.11:g.71397279AGGCG[4]
NG_008835.1:g.5333AGGCG[4]
NM_001171930.2:c.-45AGGCG[4]
NM_001171931.1:c.-35_-31dup
NM_001171931.2:c.-45AGGCG[4]
NM_001171932.2:c.-45AGGCG[4]
NM_022124.6:c.-45AGGCG[4]MANE SELECT
NM_052836.4:c.-45AGGCG[4]
NC_000010.10:g.73157036AGGCG[4]
NM_001171931.1:c.-35_-31dupAGGCG
NM_022124.5:c.-35_-31dupAGGCG

Links:

dbSNP: rs71012280

NCBI 1000 Genomes Browser:

rs71012280

Molecular consequence:

NM_001171930.2:c.-45AGGCG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001171931.2:c.-45AGGCG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001171932.2:c.-45AGGCG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_022124.6:c.-45AGGCG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_052836.4:c.-45AGGCG[4] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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MAG: hypothetical protein JW885_06875 [Deltaproteobacteria bacterium]
MAG: hypothetical protein JW885_06875 [Deltaproteobacteria bacterium]
gb|MBN1881880.1||gnl|WGS:JAFGFE|JW8 875

Protein
MAG: HAMP domain-containing histidine kinase [Deltaproteobacteria bacterium]
MAG: HAMP domain-containing histidine kinase [Deltaproteobacteria bacterium]
gb|MBN1881669.1||gnl|WGS:JAFGFE|JW8 800

Protein
Saprolegnia aenigmatica strain NeSS2 internal transcribed spacer 1, partial sequ...
Saprolegnia aenigmatica strain NeSS2 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|961683649|gb|KP941580.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001851143	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jul 15, 2020)	germline	clinical testing	Citation Link,
SCV005196656	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (May 27, 2022)	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

SCV001851143

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jul 15, 2020)

germline

clinical testing

Citation Link,

SCV005196656

Clinical Genetics Laboratory, Skane University Hospital Lund

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(May 27, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 GeneDx, SCV001851143.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005196656.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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