NM_194292.3(SASS6):c.170dup (p.Leu57fs) AND Microcephaly 14, primary, autosomal recessive

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 23, 2020
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:: RCV004799267.1

Allele description [Variation Report for NM_194292.3(SASS6):c.170dup (p.Leu57fs)]

NM_194292.3(SASS6):c.170dup (p.Leu57fs)

Gene:

SASS6:SAS-6 centriolar assembly protein [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1p21.2

Genomic location:

Preferred name:

NM_194292.3(SASS6):c.170dup (p.Leu57fs)

HGVS:

NC_000001.11:g.100123253dup
NG_051914.1:g.14850dup
NM_001304829.2:c.-295-769dup
NM_194292.3:c.170dupMANE SELECT
NP_919268.1:p.Leu57fs
NC_000001.10:g.100588809dup
NM_194292.1:c.170dup

Protein change:

L57fs

Links:

dbSNP: rs763290832

NCBI 1000 Genomes Browser:

rs763290832

Molecular consequence:

NM_194292.3:c.170dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304829.2:c.-295-769dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Microcephaly 14, primary, autosomal recessive
Identifiers:: MONDO: MONDO:0014623; MedGen: C4225338; Orphanet: 2512; OMIM: 616402

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001431054	New York Genome Center - CSER-NYCKidSeq	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Likely Pathogenic (Jan 23, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001431054

New York Genome Center - CSER-NYCKidSeq

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Likely Pathogenic
(Jan 23, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001431054.3

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

Last Updated: Dec 14, 2024

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