chr16-28984436-C-G

Variant names:

• chr16-28984436-C-G
• rs7140
• NM_032038.3:c.*137C>G

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_032038.3(SPNS1):​c.*137C>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 34)
• Consequence: SPNS1 NM_032038.3 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.46
• Publications: 29 publications found

Genes affected

SPNS1 (HGNC:30621): (SPNS lysolipid transporter 1, lysophospholipid) Predicted to enable transmembrane transporter activity. Predicted to be involved in lipid transport and transmembrane transport. Located in lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000261067 (HGNC:):

ACMG classification

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

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.07327944).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_032038.3. 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
	SPNS1	NM_032038.3	MANE Select	c.*137C>G		3_prime_UTR	Exon 12 of 12	NP_114427.1
	SPNS1	NM_001142448.2		c.*137C>G		3_prime_UTR	Exon 13 of 13	NP_001135920.1
	SPNS1	NM_001142451.2		c.*137C>G		3_prime_UTR	Exon 11 of 11	NP_001135923.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SPNS1	ENST00000311008.16	TSL:1 MANE Select	c.*137C>G		3_prime_UTR	Exon 12 of 12	ENSP00000309945.11
	SPNS1	ENST00000565975.5	TSL:1	c.*137C>G		3_prime_UTR	Exon 13 of 13	ENSP00000454360.1
	SPNS1	ENST00000334536.12	TSL:1	c.*137C>G		3_prime_UTR	Exon 11 of 11	ENSP00000335494.8

Frequencies

GnomAD3 genomes Cov.: 34

GnomAD4 exome Cov.: 9

GnomAD4 genome Cov.: 34

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.070
BayesDel_addAF	Benign	-0.25	T
BayesDel_noAF	Benign	-0.60
CADD	Benign	6.8
DANN	Uncertain	0.99
DEOGEN2	Benign	0.0050	T
FATHMM_MKL	Benign	0.010	N
LIST_S2	Benign	0.21	T
MetaRNN	Benign	0.073	T
PhyloP100		-1.5
PROVEAN	Benign	0.070	N
Sift	Pathogenic	0.0	D
Sift4G	Uncertain	0.031	D
MVP		0.32
GERP RS		0.77
PromoterAI		0.033	Neutral
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1

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: rs7140; hg19: chr16-28995757;