rs67844941

Variant names:

• chr1-100102675-CAAAAAAAAAA-C
• rs67844941
• NM_194292.3:c.1674+270_1674+279delTTTTTTTTTT

Your query was ambiguous. Multiple possible variants found:

• chr1-100102675-CAAAAAAAAAA-C
• chr1-100102675-CAAAAAAAAAA-CA
• chr1-100102675-CAAAAAAAAAA-CAAAAA
• chr1-100102675-CAAAAAAAAAA-CAAAAAA
• chr1-100102675-CAAAAAAAAAA-CAAAAAAA
• chr1-100102675-CAAAAAAAAAA-CAAAAAAAA
• chr1-100102675-CAAAAAAAAAA-CAAAAAAAAA
• chr1-100102675-CAAAAAAAAAA-CAAAAAAAAAAA
• chr1-100102675-CAAAAAAAAAA-CAAAAAAAAAAAA
• chr1-100102675-CAAAAAAAAAA-CAAAAAAAAAAAAA
• chr1-100102675-CAAAAAAAAAA-CAAAAAAAAAAAAAA
• chr1-100102675-CAAAAAAAAAA-CAAAAAAAAAAAAAAA
• chr1-100102675-CAAAAAAAAAA-CAAAAAAAAAAAAAAAAA

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_194292.3(SASS6):​c.1674+270_1674+279delTTTTTTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 21)
• Consequence: SASS6 NM_194292.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.04
• Publications: 0 publications found

Genes affected

SASS6 (HGNC:25403): (SAS-6 centriolar assembly protein) The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]

SASS6 Gene-Disease associations (from GenCC):

• microcephaly 14, primary, autosomal recessive

  Inheritance: AR Classification: STRONG, MODERATE Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics, G2P
• autosomal recessive primary microcephaly

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SASS6	NM_194292.3	c.1674+270_1674+279delTTTTTTTTTT		intron_variant	Intron 14 of 16	ENST00000287482.6	NP_919268.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SASS6	ENST00000287482.6	c.1674+270_1674+279delTTTTTTTTTT		intron_variant	Intron 14 of 16	1	NM_194292.3	ENSP00000287482.5
SASS6	ENST00000462159.1	n.1907+270_1907+279delTTTTTTTTTT		intron_variant	Intron 13 of 15	1

Frequencies

GnomAD3 genomes Cov.: 21

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 21

Alfa AF: 0.00 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		2.0

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs67844941; hg19: chr1-100568231;