NM_001080512.3(BICC1):c.387+1G>C AND Renal agenesis

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 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:: RCV001807685.1

Allele description [Variation Report for NM_001080512.3(BICC1):c.387+1G>C]

NM_001080512.3(BICC1):c.387+1G>C

Gene:

BICC1:BicC family RNA binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.1

Genomic location:

Preferred name:

NM_001080512.3(BICC1):c.387+1G>C

HGVS:

NC_000010.11:g.58785081G>C
NG_029759.2:g.276938G>C
NM_001080512.3:c.387+1G>CMANE SELECT
LRG_853t1:c.387+1G>C
LRG_853:g.276938G>C
NC_000010.10:g.60544841G>C
NM_001080512.2:c.387+1G>C

Links:

dbSNP: rs778832785

NCBI 1000 Genomes Browser:

rs778832785

Molecular consequence:

NM_001080512.3:c.387+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Renal agenesis
Identifiers:: MONDO: MONDO:0018470; MedGen: C0542519; OMIM: PS191830; Human Phenotype Ontology: HP:0000104

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002037127	Molecular Genetics laboratory, Necker Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 15, 2021)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 35005812

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002037127

Molecular Genetics laboratory, Necker Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 15, 2021)

de novo

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	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

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Jordan P, Dorval G, Arrondel C, Morinière V, Tournant C, Audrezet MP, Michel-Calemard L, Putoux A, Lesca G, Labalme A, Whalen S, Loeuillet L, Martinovic J, Attie-Bitach T, Bessières B, Schaefer E, Scheidecker S, Lambert L, Beneteau C, Patat O, Boute-Benejean O, Molin A, et al.

Hum Mutat. 2022 Mar;43(3):347-361. doi: 10.1002/humu.24324. Epub 2022 Jan 10.

PubMed [citation]

PMID:: 35005812

Details of each submission

From Molecular Genetics laboratory, Necker Hospital, SCV002037127.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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