rs36021744

Variant names:

• chr7-97858834-GTTT-G
• rs36021744
• NM_001673.5:c.775+17_775+19delAAA

Your query was ambiguous. Multiple possible variants found:

• chr7-97858834-GTTT-G
• chr7-97858834-GTTT-GTT
• chr7-97858834-GTTT-GTTTT
• chr7-97858834-GTTT-GTTTTT
• chr7-97858834-GTTT-GTTTTTT

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2 BP6_Moderate

The NM_001673.5(ASNS):​c.775+17_775+19delAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely benign (★).

• Frequency: Genomes: not found (cov: 21)
• Consequence: ASNS NM_001673.5 intron
• Clinical Significance: Likely benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.0440
• Publications: 0 publications found

Genes affected

ASNS (HGNC:753): (asparagine synthetase (glutamine-hydrolyzing)) The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]

ASNS Gene-Disease associations (from GenCC):

• congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

  Inheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Orphanet, ClinGen, Labcorp Genetics (formerly Invitae), G2P

ENSG00000284707 (HGNC:):

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP6: Variant 7-97858834-GTTT-G is Benign according to our data. Variant chr7-97858834-GTTT-G is described in ClinVar as Likely_benign. ClinVar VariationId is 2974414.Status of the report is criteria_provided_single_submitter, 1 stars.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001673.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ASNS	NM_001673.5	MANE Select	c.775+17_775+19delAAA		intron	N/A	NP_001664.3
	ASNS	NM_001352496.2		c.775+17_775+19delAAA		intron	N/A	NP_001339425.1	P08243-1
	ASNS	NM_133436.3		c.775+17_775+19delAAA		intron	N/A	NP_597680.2	P08243-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ASNS	ENST00000394308.8	TSL:1 MANE Select	c.775+17_775+19delAAA		intron	N/A	ENSP00000377845.3	P08243-1
	ASNS	ENST00000175506.8	TSL:1	c.775+17_775+19delAAA		intron	N/A	ENSP00000175506.4	P08243-1
	ASNS	ENST00000931349.1		c.778+17_778+19delAAA		intron	N/A	ENSP00000601408.1

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

ClinVar

ClinVar submissions

Significance: Likely benign

Revision: criteria provided, single submitter

Pathogenic	VUS	Benign	Condition
-	-	1	not provided (1)

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.044

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs36021744; hg19: chr7-97488146;