NM_000100.4(CSTB):c.67-1G>C AND multiple conditions

Germline classification:: Pathogenic (1 submission)
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:: RCV001254919.9

Allele description [Variation Report for NM_000100.4(CSTB):c.67-1G>C]

NM_000100.4(CSTB):c.67-1G>C

Gene:

CSTB:cystatin B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_000100.4(CSTB):c.67-1G>C

HGVS:

NC_000021.9:g.43774760C>G
NG_011545.1:g.6619G>C
NM_000100.4:c.67-1G>CMANE SELECT
LRG_485t1:c.67-1G>C
LRG_485:g.6619G>C
NC_000021.8:g.45194641C>G
NM_000100.2:c.67-1G>C
NM_000100.3:c.67-1G>C

Note:

NCBI staff reviewed the sequence information reported in PubMed 8596935 Fig. 4 in the figure to determine the location of this allele on the current reference sequence.

Nucleotide change:

IVS1, G-C, -1

Links:

OMIM: 601145.0001; dbSNP: rs147484110

NCBI 1000 Genomes Browser:

rs147484110

Molecular consequence:

NM_000100.4:c.67-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Microcephaly
Synonyms:: Microcephaly (disease)
Identifiers:: MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252

Name:: Encephalopathy
Synonyms:: Unspecified encephalopathy
Identifiers:: MedGen: C0085584; Human Phenotype Ontology: HP:0001298

Name:: Cerebral dysmyelination
Identifiers:: MedGen: C1854885; Human Phenotype Ontology: HP:0007266

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001431008	Génétique des Maladies du Développement, Hospices Civils de Lyon	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	inherited	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

SCV001431008

Génétique des Maladies du Développement, Hospices Civils de Lyon

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

inherited

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	inherited	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 Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001431008.1

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

Last Updated: May 12, 2024

ClinVar

Relating variation to medicine